Author Year PMID Platform Cases control Familial population chromosome cytoband type Genes Main findings note Wilson 2006 16434481 human BAC microarray 2.0 and qPCR 35 + 15 35 + 15 Sporadic NA 5 q21.3 del EFNA5 (1 gene) 4 genes in the abrrent loci are associated with neuronal function Bipolar disorder is also included in this research; EFNA5 was not validated by qPCR Wilson 2006 16434481 human BAC microarray 2.1 and qPCR 35 + 15 35 + 15 Sporadic NA 22 q12.3 del CACNG2 (1 gene) 4 genes in the abrrent loci are associated with neuronal function Bipolar disorder is also included in this research Wilson 2006 16434481 human BAC microarray 2.2 and qPCR 35 + 15 35 + 15 Sporadic NA 14 q23.3 dup AKAP5 (1 gene) 4 genes in the abrrent loci are associated with neuronal function Bipolar disorder is also included in this research Wilson 2006 16434481 human BAC microarray 2.3 and qPCR 35 + 15 35 + 15 Sporadic NA 1 p34.3 dup GRIK3 (1 gene) 4 genes in the abrrent loci are associated with neuronal function Bipolar disorder is also included in this research Sutrala 2007 17826036 Multiplex amplicon quantification/Allelic quantification NA NA Sporadic UK/Belgium/northern Sweden - - - - No CNV were found for any of the genes (EFNA5/CACNG2/AKAP5/GRIK3) in any samples CGH array have high false positive rate in detect CNV Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 1 q44 dup EFCAB2/KIF26B (2 genes) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from father Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 2 p16.3 del NRXN1 (1 gene) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 3 q22.3 dup FOXL2/BPESC1 (6 genes) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 4 q35.2 dup - 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 6 p21.1 dup TREML4/TREML1 (3 genes) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from father Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 9 q21.12 dup TRPM3 (1 gene) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 15 q13.1 dup APBA2/NDNL2 (3 genes) 13 aberrations were found to be associated with SZ 1/93 in cases; De novo Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 15 q26.1 dup - 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 16 p12.2 del UQCRC2/EEF2K (7 genes) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 17 q22 del - 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 22 q11.22 dup PPM1F/TOP3B (3 genes) 13 aberrations were found to be associated with SZ 2/93 in cases; both inhereated from mother Kirov 2008 17989066 Tiling Path BAC Array 93 trios Database of Genomic Variants + 372 Familial + Sporadic Bulgarian 22 q11.23 dup UBP1/SNRPD3 (8 genes) 13 aberrations were found to be associated with SZ 1/93 in cases; inhereated from father The International Schizophrenia Consortium 2008 18668038 Affy SNP 5.0 & 6.0 array 3391 3181 Sporadic European 22 q11.2 del USP18/DGCR6 (43 genes) CNV burden is higher in cases than in control subjects both in terms of CNV count or by gene count A total of 890 CNVs were observed in either a case or a control as a single occurrence The International Schizophrenia Consortium 2008 18668038 Affy SNP 5.0 & 6.0 array 3391 3181 Sporadic European 15 q13.3 del MTMR10/TRPM1 (7 genes) CNV burden is higher in cases than in control subjects both in terms of CNV count or by gene count A total of 891 CNVs were observed in either a case or a control as a single occurrence The International Schizophrenia Consortium 2008 18668038 Affy SNP 5.0 & 6.0 array 3391 3181 Sporadic European 1 q21.1 del NOTCH2NL/BCL9 (27 genes) CNV burden is higher in cases than in control subjects both in terms of CNV count or by gene count A total of 892 CNVs were observed in either a case or a control as a single occurrence Stefansson 2008 18668039 Illumina HumanHap chip/Affymetrix SNP6.0, Taqman qPCR 1433+3285 33250+7951 (de novo CNV Discovery: 2160 trios and 5558 pairs) Familial + Sporadic European + Chinese 1 q21.1 del BCL9/FMO5 (10 genes) 3 deletions were found to be significantly associated with SZ 66 CNVs were identified in the familial stage Stefansson 2008 18668039 Illumina HumanHap chip/Affymetrix SNP6.1, Taqman qPCR 1433+3286 33250+7951 (de novo CNV Discovery: 2160 trios and 5559 pairs) Familial + Sporadic European + Chinese 15 q11.2 del CYFIP1/NIPA2 (4 genes) 3 deletions were found to be significantly associated with SZ 66 CNV were identified in the familial stage Stefansson 2008 18668039 Illumina HumanHap chip/Affymetrix SNP6.2, Taqman qPCR 1433+3287 33250+7951 (de novo CNV Discovery: 2160 trios and 5560 pairs) Familial + Sporadic European + Chinese 15 q13.3 del MTMR10/TRPM1 (6 genes) 3 deletions were found to be significantly associated with SZ 66 CNV were identified in the familial stage Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 1 q21.1 del NBPF10/BCL9 (11 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 1 q42.2 dup SLC35F3/TARBP1 (3 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 2 p16.3 dup LHCGR/FSHR (3 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 2 q34 del ERBB4 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 3 p26.1 del GRM7 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 3 p21.1 dup PRKCD/RFT1 (2 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 3 q29 del CEP19/LRRC33 (20 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 5 p13.2 del SKP2/SLC1A3 (4 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 7 q21.11 dup MAGI2/PHTF2 (2 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 7 q22.1 dup SLC12A9/CAV1 (82 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 7 q36.1 dup PRKAG2/MLL3 (4 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 8 q24.3 dup PTK2/DENND3 (3 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 9 p24.3 dup SMARCA2/VLDLR (4 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 9 p24.2 del RFX3 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 9 p21.2 dup TUSC1 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 11 p13 dup HIPK3/C11orf41 (2 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 11 q14.1 del DLG2 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 14 q22.2 dup BMP4 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 18 p11.31 dup LAMA1/PTPRM (2 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 19 q13.42 dup TMC4/MYADM (13 genes) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians 22 q12.3 dup LARGE1 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians Y entire Y dup entire Y Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Walsh 2008 18369103 ROMA/Illumina 550K/NimbleGen 2.1M 150 + 83 childhood-onset cases 268 + 154 nontransmitting chr from parents Familial + Sporadic Caucasians Y q12 dup VAMP7 (1 gene) Individuals with schizophrenia were more than three times as likely as controls to harbor rare structural variants that deleted or duplicated one or more genes 1/150 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 2 p25.3 dup MYT1L/SNTG2 (4 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 2 q14.1 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 2 p16.3 del NRXN1 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 3 q13.11 del - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 3 p26.2 del - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 5 p15.2 dup CTNND2/DAP (7 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 9 p23 del - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 9 q33.1 del ASTN2 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 10 q22.1 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 16 q24.2 dup JPH3/BANP (2 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 17 q12 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 18 p11.31 dup L3MBTL4 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 20 q13.12 del - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 1 p11.2 dup SRGAP2 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 2 q37.3 del LOC441309 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 3 q26.1 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 3 q29 dup MUC20/MUC4 (3 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 4 q28.3 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 5 p13.3 dup GOLPH3 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 5 q11.2 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 6 q27 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 6 q14.1 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 7 q11.2 del INTS4 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 8 q24.23 del 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 3/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 8 p22 del MTUS1 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 8 p22 dup MTUS1 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 9 p11.2 dup LOC554249/KGFLP1 (2 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 10 q11.22 dup GPRIN2/ANXA8 (>10 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 10 p12.33 dup NSUN6 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 11 p14.3 dup LUZP2 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 11 p13 dup DCDC5/DCDC1 (2 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 12 p11.21 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 12 p11.1 del SYT10 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 12 q13.13 dup KRT81/KRT83 (5 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 12 q23.3 dup BTBD11 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 14 q11.2 dup OR4N2 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 14 q11.2 del OR4N2/OR4K2 (4 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 9/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 14 q11.1-14q11.2 del POTEG/A26C2 (>10 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 15 q11.2 del HERC2P3/OR4N4 (>10 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 11/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 15 q11.2 dup HERC2P3/OR4N4 (>10 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 10/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 15 q14 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 16 p13.2 del A2BP1 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 16 p12.1 dup UQCRC2/EEF2K (7 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 17 q12 dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 4/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 17 q21.31 del KIAA1267 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 17 q21.31 dup KIAA1267 (1 gene) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 21 p11.2-21q11.2 del TPTE1/BAGE2 (7 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 22 q11.22? dup - 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 22 q11.23 del LRP5L/IGLL3 (5 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 1/54 in cases Vrijenhoek 2008 18940311 Affy 250K SNP array/Illumina HumanHap550 chip 54 + 752 Previous literature + 706 Sporadic European 22 q11.23 dup LRP5L/IGLL3 (5 genes) 13 rare CNVs in 13 patients; 4 candidate loci involved in neuronal functions (NRXN1, MYT1L, AXTN2, and CTNND2) 2/54 in cases Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 14 q32.13-14q32.2 dup SERPINA9/SERPINA4 (24 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 1 p34.2 dup MYCL1/CAP1 (10 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 22 q11.21 del POTEH/TPTEP1 (>20 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 q22.2 del MSL2/STAG1 (7 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 6 p22.3 dup FAM8A1/NUP153 (4 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 16 p13.2 dup 3 genes de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 9 p23 del 1 gene de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 12 q24.23 dup CIT (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 19 q13.12 del ZNF345/ZNF829 (4 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 p24.1 dup CMC1/AZI2 (3 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 5 q31.1 del RAPGEF6 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 p26.1 dup 2 genes de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 4 q34.1 dup CR600749 (4 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 16 p13.2 dup A2BP1 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 10 q21.1 del - de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare de novo copy number mutations Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 9 p24.1 dup INSL6/INSL4 (13 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 5 q15 dup ELL2/PCSK1 (2 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 17 p11.2 dup SPECC1 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 2 q24.1 dup GALNT13/KCNJ3 (2 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 12 q12 dup ALG10B (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 7 q11.22 dup WBSCR17 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 11 q14.1 del DLG2 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 4 p16.2 dup DOK7/RGS12 (5 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 11 q25 dup B3GAT1 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 4 q28.3 del PABPC4L (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 7 p22.1 del JTV1/EIF2AK1 (3 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 p21.31 dup SMARCC1/MAP4 (3 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 12 q24.31 dup MPHOSPH9/CDK2AP1 (4 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 2 q35 del BARD1 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 7 q36.2 dup DPP6 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 p14.2 del FHIT (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 2 q21.2 del NAP5 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 22 q11.23 dup CYTSA/ADORA2A (2 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 1 q21.1 del ZNF364/CD160 (5 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 2 q22.2 dup LRP1B (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 4 q21.21 dup FRAS1/ANXA3 (2 genes) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 13 q32.1 dup ABCC4 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 17 q25.1 dup ST6GALNAC1 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 13 q33.3 del FAM155A (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 2 p22.2 dup FAM82A (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 15 q21.3 del CGNL1 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 12 p12.1 del GYS2 (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Mother Xu 2008 18511947 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 17 q24.2 del PRKCA (1 gene) de novo CNV burden is ~8 times more frequent in sporadic cases than in unaffected controls rare inherited CNV from Father Bruce 2009 19672138 human 6K RPCI-11 BAC array 24+406 392 Sporadic American 5 p15.1 del BASP1 no relationship between the 5p15.1 and SZ - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 2 q22.1 del SPOPL/NXPH2 (2 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 3 p24.3 del TBC1D5/SATB1 (7 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 5 p15.33 del SDHA/PDCD6 (16 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 6 p12.3 del C6orf138 (1 gene) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 7 q34 del TRIM24/SVOPL (15 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 7 q36.3 del PTPRN2/NCAPG2 (5 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 10 p13 del CAMK1D/CCDC3 (11 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 17 p12 del COX10/CDRT15 (8 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 22 q11.21 del DGCR6/PRODH (43 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) X p22.33 del SHOX/CRLF2 (13 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) X p22.31 del HDHD1A/STS (4 genes) large CNVs were more common in cases than in controls also found in 3 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 1 p36.13 dup CROCC/MFAP2 (12 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 1 q21.1 dup PRKAB2/FMO5 (11 genes) large CNVs were more common in cases than in controls also found in 2 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 2 q12.2-2q12.3 dup ST6GAL2 (1 gene) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 3 p14.2 dup FAM107A/FAM3D (4 genes) large CNVs were more common in cases than in controls also found in 2 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 7 p12.3 dup TNS3/LOC401335 (9 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 7 q36.3 dup PTPRN2/NCAPG2 (5 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 8 q24.23 dup - large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 12 p11.1 dup ALG10 (1 gene) large CNVs were more common in cases than in controls also found in 4 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 13 q12.12 dup SGCG/SACS (8 genes) large CNVs were more common in cases than in controls also found in 2 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 14 q31.1 dup TSHR/GTF2A1 (4 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 14 q32.33 dup BRF1/BTBD6 (8 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 15 q11.2-15q13.1 dup MKRN3/MAGEL2 (13 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 15 q13.2-15q13.3 dup MTMR15/MTMR10 (6 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 16 p13.11 dup PDXDC1/NTAN1 (11 genes) large CNVs were more common in cases than in controls also found in 6 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) 18 q12.1 dup DSC3/DSC2 (9 genes) large CNVs were more common in cases than in controls - Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) X p22.33 dup SHOX/CRLF2 (13 genes) large CNVs were more common in cases than in controls also found in 4 controls Kirov 2009 19181681 Affymetrix 250K NspI and StyI arrays/Agilent 4 44K arrays 471 + previous literatures 4618 2792 + previous literatures 36902 Sporadic British (WTCCC) X p22.31 dup HDHD1A/STS (4 genes) large CNVs were more common in cases than in controls also found in 6 controls McCarthy 2009 19855392 four microarray platforms 1906 + 2645 3971 + 2420 Familial + Sporadic multi-source 16 p11.2 dup ALDOA/ASPHD1 (28 genes) 16p11.2 duplication was associated with 14.5-fold increased risk of schizophrenia; head circumference was significantly larger in cases with the microdeletion compared with patients with the microduplication of 16p11.2 a significant association of the 16p11.2 microduplication with schizophrenia, bipolar disorder and autism Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 1 q21.1 del BCL9/GJA5 (>10 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 2/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 8 p22 del TUSC3/MSR1 (>10 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 16 p13.11-16p12.3 del ABCC1/XYLT1 (>10 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 22 q11.21 del MICAL3/GGT2 (>20 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 4/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 1 q31.1 dup PLA2G4A (1 gene) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 2 q12.2-2q13 dup GCC2/LIMS1 (>10 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 4 q22.3-4q23 dup PDHA2/C4orf37 (2 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 13 q31.1 dup SPRY2/BC036310 (2 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 15 q11.2-15q13.1 dup MKRN3/MAGEL2 (>10 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Need 2009 19197363 Illumina HumanHap chips 1013 + 60 1084 + 64 Sporadic European + African 15 q11.2-15q13.3 dup SNRPN/UBE3A (>10 genes) large deletion CNVs were significantly more prevalent in cases than controls; deletions greater than 2 Mb are very rare in the healthy population 1/1073 in cases Rujescu 2009 18945720 HumanHap300 BeadArray 2977 33746 Sporadic European 2 p16.3 del/dup NRXN1 CNVs affecting NRXN1 gene were more common in cases (0.47%) than in controls (0.15%) No CNVs were found in NRXN2 or NRXN3 Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 1 q21.1 dup ANKRD35/CD160 (10 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 1 q21.3 dup S100A10/THEM4 (2 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 1 q25.2 dup SEC16B (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 1 q44 del OR14C36/OR2M2 (11 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 2 p15 dup AHSA2/PEX13 (4 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 p26.3 dup CNTN6 (2 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 p26.3 dup CNTN4 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 3 q13.2 del ATG3/BTLA (4 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 4 q32.1 dup C4orf45/RAPGEF2 (2 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 6 q26 del PARK2 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 7 p21.1 del LOC729920 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 7 q11.23 dup CCDC146/PMS2L11 (5 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 7 q36.3 del PTPRN2 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 8 p23.2 dup CSMD1 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 8 q21.3 dup SLC7A13 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 10 q21.1 dup PRKG1 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 10 q23.1 dup NRG3 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 13 q13.1 del RXFP2 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 14 q21.1 del LRFN5 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 16 q24.2 del FBXO31 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 20 p12.1 del MACROD2 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 21 q11.2 del A26B3/LOC441956 (2 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Father Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 21 q11.2 dup A26B3/LOC441956 (2 genes) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Xu 2009 19805367 Affymetrix 5.0 GeneChip array Sporadic cases: 152 affected child (trios); Familial cases: 48 affected child (trios) 159 unaffected trios Familial + Sporadic Afrikaner 21 q22.3 dup ADARB1 (1 gene) CNVs affect many different genes contribute to the genetic risk of familial schizophrenia inherited from Mother Amar 2010 20615253 Real-time qPCR 49 + 14 + Familial Cases: 26 trios 49 + 14 Familial + Sporadic Arabs 1 q21.3 del SELENBP1 (1 gene) decreased copy number of the SELENBP1 locus is associated with SZ - Bassett 2010 20643418 FISH 26 7 Sporadic Canadian 22 q11.2 del - - - Bassett 2010 20643418 FISH 26 7 Sporadic Canadian X YY dup - - - Bassett 2010 20643418 FISH 26 7 Sporadic Canadian 8 p23.1 del - - - Bassett 2010 20643418 FISH 26 7 Sporadic Canadian 19 p13.3 dup - - - Ikeda 2010 19880096 Affymetrix 5.0 arrays 575 564 Sporadic Japanese 1 q21.1 del BCL9/ACP6 (9 genes) provide support for the role of CNVs at 16p13.1, 1q21.1, and NRXN1 associated with SZ 1 case had this deletion Ikeda 2010 19880096 Affymetrix 5.0 arrays 575 564 Sporadic Japanese 2 p16.3 del NRXN1 (1 gene) provide support for the role of CNVs at 16p13.1, 1q21.1, and NRXN2 associated with SZ 1 case had this deletion Ikeda 2010 19880096 Affymetrix 5.0 arrays 575 564 Sporadic Japanese 16 p13.1 dup NDE1/XYLT1 provide support for the role of CNVs at 16p13.1, 1q21.1, and NRXN3 associated with SZ 4 duplications in cases and 1 in a control Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 7 q36.1 del PRKAG2 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 8 q11.21 del CEBPD (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 9 q31.2 del KLF4 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 9 q34.2 del RXRA/UBADC1 (3 genes) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 9 q34.3 del LCN8/C9orf37 (2 genes) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 10 q22.1 del COL13A1 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 12 q24.13 del LHX5 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 15 q26.1 del RHCG (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 17 q25.2 del SEPT9 (1 gen) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 19 p13.3 del STK11 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 19 q13.31 del PVR (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 21 q21.1 del BU678720 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Lee 2010 20064257 comparative genomic hybridization 10 pairs of SZ siblins 20 Sporadic Chinese 21 q22.3 del C21orf57 (1 gene) high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia - Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 2 p16.3 del NRXN1 (1 gene) The overall CNV rate per person was about 12.5 found in 5 cases Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 16 p13.11 dup C16orf45/KIAA0430 (8 genes) The overall CNV rate per person was about 12.5 found in 1 case Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 15 q11.2 del GOLGA6L/NIPA1 (> 5 genes) The overall CNV rate per person was about 12.5 found in 2 cases Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 2 q12.2 del PLGLA/RGPD3 (4 genes) The overall CNV rate per person was about 12.5 found in 1 case Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 3 q29 del TFRC/ZDHHC19 (23 genes) The overall CNV rate per person was about 12.5 found in 1 case Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 17 p12 del COX10/CDRT15 (9 genes) The overall CNV rate per person was about 12.5 found in 1 case Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 4 q32.1 del FSTL5 (1 gene) The overall CNV rate per person was about 12.5 found in 1 case; CNV >900kb Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 5 q14.3 del RDIL3 (1 gene) The overall CNV rate per person was about 12.5 found in 1 case; CNV >900kb Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 8 q23.3 del CSMD3 (1 gene) The overall CNV rate per person was about 12.5 found in 1 case; CNV >900kb Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 11 q25 del JAM3/NCAPD3 (8 genes) The overall CNV rate per person was about 12.5 found in 1 case; CNV >900kb Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 17 q12 dup ACCN1/CCL (1 gene) The overall CNV rate per person was about 12.5 found in 1 case; CNV >900kb Magri 2010 20967226 Affymetrix 6.0 arrays 172 160 Sporadic Italian 15 q13.2-15q13.3 dup MTMR10/TRPM1 (15 genes) The overall CNV rate per person was about 12.5 found in 1 case; CNV >901kb Moreno-De-Luca 2010 21055719 cytogenomic array + FISH + qPCR 15749 (including several with ASD) + 6340 4519 + 47929 Sporadic multi-source 17 q12 del LHX1/DDX52 (15 genes) deletion 17q12 is a recurrent, pathogenic CNV that confers a very high risk for ASD and schizophrenia 18/15749 in cases, 0/4519 controls; 4/6340 cases, 0/47929 controls Muller 2010 20691406 Affymetrix Human Genome-Wide SNP Array 6.0 245 + previous literatures 7300 490 + previous literatures 39258 Sporadic shkenazi Jewish 3 q29 del PAK2/DLG1 (19 genes) microdeletions of 3q29 confer high risk for schizophrenia 6/7545 in cases, 1/39748 in controls Muller 2010 20691406 Affymetrix Human Genome-Wide SNP Array 6.0 245 + previous literatures 7300 490 + previous literatures 39258 Sporadic shkenazi Jewish 3 p263. del CNTN6 (1 gene) microdeletions of 3q29 confer high risk for schizophrenia 2/245 in cases, 1/490 in controls Muller 2010 20691406 Affymetrix Human Genome-Wide SNP Array 6.0 245 + previous literatures 7300 490 + previous literatures 39258 Sporadic shkenazi Jewish 10 q11.23-q21.1 del PRKG1/PCDH15 (4 genes) microdeletions of 3q29 confer high risk for schizophrenia 1/245 in cases, 0/490 in controls Muller 2010 20691406 Affymetrix Human Genome-Wide SNP Array 6.0 245 + previous literatures 7300 490 + previous literatures 39258 Sporadic shkenazi Jewish 16 p11.2-p12.1 del GSG1L/EIF3CL (41 genes) microdeletions of 3q29 confer high risk for schizophrenia 1/245 in cases, 0/490 in controls Muller 2010 20691406 Affymetrix Human Genome-Wide SNP Array 6.0 245 + previous literatures 7300 490 + previous literatures 39258 Sporadic shkenazi Jewish 22 q11.21 del DGCR6/DGCR2 (66 genes) microdeletions of 3q29 confer high risk for schizophrenia 2/245 in cases, 0/490 in controls Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 22 q11.23 dup GSTT2/DDTL (>20 genes) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 2/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 22 q11.21 dup SNAP29/CRKL (8 genes) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 1/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 15 q13.1 dup NDNL2/KIAA0527 (2 genes) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 1/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 16 q23.1 dup WWOX (1 gene) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 1/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 17 q12 dup ZNHIT3/MYOHD1 (2 genes) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 1/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 7 q22.1 dup PRKRIP1 (1 gene) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 1/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 8 p23.3 dup MYOM2 (1 gene) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 1/654 in cases Rodriguez-Santiago 2010 19528963 Multiplex-ligation PCR amplification + Illumina or Agilent array 654 604 Sporadic Spanish 16 p13.3 dup SSTR5 (1 gene) common CNVs that may act as susceptibility factors by disturbing glutathione metabolism 3/654 in cases Saus 2010 20398908 Multiplex-ligation PCR amplification 191 341 Sporadic Spanish 21 q22.3 dup S100B (1 gene) no statistically significant difference in the total amount of CNV between psychiatric disorders and controls 2/191 in cases; hg18/chr21: 46847809 - 46847868 Saus 2010 20398908 Multiplex-ligation PCR amplification 191 341 Sporadic Spanish 6 p21.2 del GLO1 (1 gene) no statistically significant difference in the total amount of CNV between psychiatric disorders and controls 1/191 in cases; hg18/chr6: 38763590-38763647 Saus 2010 20398908 Multiplex-ligation PCR amplification 191 341 Sporadic Spanish 16 p13.3 dup SSTR5 (1 gene) no statistically significant difference in the total amount of CNV between psychiatric disorders and controls 1/191 in cases; hg18/chr16: 1069623-1069682 Saus 2010 20398908 Multiplex-ligation PCR amplification 191 341 Sporadic Spanish 21 q22.3 del S100B (1 gene) no statistically significant difference in the total amount of CNV between psychiatric disorders and controls 1/191 in cases; hg18/chr21: 46847809-46847868 Saus 2010 20398908 Multiplex-ligation PCR amplification 191 341 Sporadic Spanish 22 q11.21 del COMT (1 gene) no statistically significant difference in the total amount of CNV between psychiatric disorders and controls 1/191 in cases; hg18/chr22:18335516-18335575 Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 12 p12.3 del RERGL (1 gene) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 6 p22.3 del PRL/AK094718 (5 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 6 q16.1 del C6orf167/KLHL32 (4 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 7 p21.1 del SNX13/HDAC9 (6 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 7 q21.3 del COL1A2/CASD1 (3 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 8 p23.1 del TNKS/MSRA (2 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 1 p31.1 dup NEGR1/BC054887 (2 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 9 q34.3 dup OLMF1/C9orf62 (2 genes) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 3 p12.1-3p11.2 dup VGLL3 (1 gene) - - Tam 2010 20298200 comparative genomic hybridization + qPCR + Nimblegen high-density oligonucleotide arrays 91 92 Sporadic Scottish 15 q12.1 del KIF2A/DIMT1L (2 genes) - - Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 16 p13.2 del A2BP1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 1/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 16 p13.2 dup A2BP1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 0/834 in cases; 3/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 9 q33.1 dup ASTN2 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 15 q13.3 del CHRNA7 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 15 q13.3 dup CHRNA7 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 0/834 in cases; 2/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 7 q35-7q36.1 del CNTNAP2 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 22 q11.21 del COMT (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 5 p15.2 dup CTNND2 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 15 q11.2 del CYFIP1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 4/834 in cases; 3/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 15 q11.2 dup CYFIP1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 6/834 in cases; 4/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 1 q42.2 dup DISC1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 2/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 1 q44 dup EFCAB2 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 2 q34 del ERBB4 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 22 q11.23 dup GSTT2 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 0/834 in cases; 1/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 1 q44 del KIF26B (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 1 q44 dup KIF26B (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 2 p25.3 dup MYT1L (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 2/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 16 p13.1 dup NDE1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 3/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 2 p16.3 del NRXN1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 2p 16.3 dup NRXN1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 1/834 in cases; 1/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 16 p13.1 dup NTAN1 (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 3/834 in cases; 1/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 22 q11.21 del PI4KCA (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 2/834 in cases; 0/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 22 q11.21 dup PI4KCA (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 0/834 in cases; 1/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 22 q11.21 del PRODH (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 9/834 in cases; 2/672 in controls Buizer-Voskamp 2011 21489405 HumanHap550v3 BeadArray 834 672 Sporadic Dutch 22 q11.21 dup PRODH (1 gene) significantly more deletions but not duplications in schizophrenia cases versus control subjects 13/834 in cases; 10/672 in controls Ingason 2011 21324950 Illumina HumanCNV370 microarray; Illumina Human610-Quad array 7582 41370 Sporadic European 15 q11-q13 dup ATP10A/GABRB3 (>10 genes) risk for psychosis in people with PraderWilli syndrome caused by maternal uniparental disomy is much higher than in those caused by deletion of the paternal chromosome 4/7582 in cases; 5/41370 in controls Ingason 2011 19786961 HumanHap300 BeadArray; HumanHap550 BeadArray; Human 610-Quad BeadArray; Affymetrix Gene-Chip(r) GenomeWide SNP 6.0 array 4345 35079 Sporadic European 16 p13.1 dup NDE1/MYH11 (>10 genes) threefold excess of duplications and deletions in schizophrenia cases compared with controls duplications in 0.30% of cases and 0.09% of controls Ingason 2011 19786961 HumanHap300 BeadArray; HumanHap550 BeadArray; Human 610-Quad BeadArray; Affymetrix Gene-Chip(r) GenomeWide SNP 6.0 array 4345 35079 Sporadic European 16 p13.1 del NDE1/MYH11 (>10 genes) threefold excess of duplications and deletions in schizophrenia cases compared with controls deletions in 0.12 % of cases and 0.04% of controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 7 q36.3 dup VIPR2 (1 gene) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions VIPR2 exonic duplications; 10/3945 in cases; 2/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 9 q21.33 dup AGTPBP1 (1 gene) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions AGTPBP1 exonic duplications; 5/3945 in cases; 0/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 11 q25 del GLB1L3/GLB1L2 (2 genes) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions GLB1L3/GLB1L2 exonic deletions; 15/3945 in cases; 3/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 16 p13.2 dup C16orf72 (1 gene) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions C16orf72 exonic deletions; 10/3945 in cases; 0/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 18 q21.31 dup NEDD4L (1 gene) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions NEDD4L exonic deletions; 6/3945 in cases; 1/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 3 q29 del TFRC/ZDHHC19 (>10 genes) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions 5/3945 in cases; 0/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 3 q26.1 del - the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions 5/3945 in cases; 0/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 1 q21.1 del PRKAB2/FMO5 (>10 genes) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions 4/3945 in cases; 1/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 1 q21.1 dup PRKAB2/FMO5 (>10 genes) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions 7/3945 in cases; 0/3611 in controls Levinson 2011 21285140 Affymetrix 6.0 genotyping arrays 3945 3611 Sporadic European + African American 15 q13.3 del KLF13/OTUD7A (>10 genes) the data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions 7/3945 in cases; 1/3611 in controls Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 1 p36.13 dup NBPF1/NBPF10 (2 genes) - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 8 p23.1 del DEFB109 (1 gene) - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 9 p11.2 dup LOC100132167 (1 gene) - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 3 q21.2 dup - - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 4 p11 dup - - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 5 p13.3 dup - - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 7 q11.21 dup - - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 13 q11 dup - - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 15 q13.2 dup CHRFAM (1 gene) - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 17 p11.1 dup - - found in 1 case; de novo CNVs from mitosis Maiti 2011 21399695 Affymetrix 6.0 human SNP array + RT-PCR 2 families with monozygotic twins discordant for schizophrenia - Familial Canadian 19 q13.41 dup - - found in 1 case; de novo CNVs from mitosis Malhotra 2011 22196331 NimbleGen HD2 array CGH 177 trios 426 trios Familial - 4 q26 del - rare spontaneous mutations are an important contributor to risk for neuropsychiatric diseases in 1 of the SZ cases; de novo Malhotra 2011 22196331 NimbleGen HD2 array CGH 177 trios 426 trios Familial - 8 p21.2 del - rare spontaneous mutations are an important contributor to risk for neuropsychiatric diseases in 1 of the SZ cases; de novo Malhotra 2011 22196331 NimbleGen HD2 array CGH 177 trios 426 trios Familial - 8 q23.3 del CSMD3 (1 gene) rare spontaneous mutations are an important contributor to risk for neuropsychiatric diseases in 1 of the SZ cases; de novo Malhotra 2011 22196331 NimbleGen HD2 array CGH 177 trios 426 trios Familial - 1 p36.33 del SAMD11/KLKL17 (>10 genes) rare spontaneous mutations are an important contributor to risk for neuropsychiatric diseases in 1 of the SZ cases; de novo Malhotra 2011 22196331 NimbleGen HD2 array CGH 177 trios 426 trios Familial - 22 q11.21 dup USP41/ZNF74 (>10 genes) rare spontaneous mutations are an important contributor to risk for neuropsychiatric diseases in 1 of the SZ cases; de novo Malhotra 2011 22196331 NimbleGen HD2 array CGH 177 trios 426 trios Familial - 6 p22.3 dup FAM8A1/NUP153 (4 genes) rare spontaneous mutations are an important contributor to risk for neuropsychiatric diseases in 1 of the SZ cases; de novo Melhem 2011 21982423 Affymetrix Genomewide Human SNP Array 5.0 197 185 relatives + 159 controls Familial + Sporadic Palauan 1 q21.1 del FMO5/CHD1L (>10 genes) CNVs thought to be associated with risk for SZ and related disorders also occur in affected individuals in Palau 1/197 in cases Melhem 2011 21982423 Affymetrix Genomewide Human SNP Array 5.0 197 185 relatives + 159 controls Familial + Sporadic Palauan 15 q11.2 del OR4N4/CYFIP1 (9 genes) CNVs thought to be associated with risk for SZ and related disorders also occur in affected individuals in Palau 2/197 in cases; 3/185 in relatives of an affected Melhem 2011 21982423 Affymetrix Genomewide Human SNP Array 5.0 197 185 relatives + 159 controls Familial + Sporadic Palauan 16 p13.2 dup A2BP1 (1 gene) CNVs thought to be associated with risk for SZ and related disorders also occur in affected individuals in Palau 6/197 in cases; 6/185 in relatives of an affected; 1/159 in controls Melhem 2011 21982423 Affymetrix Genomewide Human SNP Array 5.0 197 185 relatives + 159 controls Familial + Sporadic Palauan X p21.3 dup IL1RAPL1 (1 gene) CNVs thought to be associated with risk for SZ and related disorders also occur in affected individuals in Palau 4/197 in cases; 6/185 in relatives of an affected; 2/159 in controls Melhem 2011 21982423 Affymetrix Genomewide Human SNP Array 5.0 197 185 relatives + 159 controls Familial + Sporadic Palauan X YY dup - CNVs thought to be associated with risk for SZ and related disorders also occur in affected individuals in Palau 2/197 in cases; 0/185 in relatives of an affected; 1/159 in controls Ramalingam 2011 21614007 Agilent Human Genome Microarray Kit 244K 1645 patients with virous developmental disorders - Sporadic American 16 p13.11 del MYH11/NDE1 (-) abnormalities in 16p13.11 may be a cause of various developmental disorders 4/1645 in cases Ramalingam 2011 21614007 Agilent Human Genome Microarray Kit 244K 1645 patients with virous developmental disorders - Sporadic American 16 p13.11 dup MYH11/NDE1 (-) abnormalities in 16p13.11 may be a cause of various developmental disorders 8/1645 in cases Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 22 q11.21 del BCR (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 24/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q36.3 dup VIPR2 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 20/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 16 p11.2 dup KIF22/MVP (28 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 22/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 15 q13.3 del OTUD7A (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 18/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q36.3 dup VIPR2/BC042556 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 14/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 15 q13.3 del MTMR15 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 18/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 3 q29 dup CR597873/SDHALP2 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 10/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 6 q26 dup PARK2 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 17/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 18 p11.32 dup YES1 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 6 q26 dup PARK2 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 15/8290 in cases; 8/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 19 q13.43 dup ZNF584/ZNF132 (>10 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q36.1 dup GALNT11/MALL3 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 9/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q37.3 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 26/8290 in cases; 11/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q21.1-2q21.2 dup TUBA3D/CCDC74A (-) Duplications of the VIPR2 gene confer significant risk for schizophrenia 7/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 15 q11.2 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 q21.2 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 17/8290 in cases; 9/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 18 p11.32 dup CETN1/CLUL1 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 8/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 1 p36.33 del SAMD11/KLKL17 (>10 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q14.3 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 p24.1 dup GLDC/JMJD2C (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 13/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 17 p11.2 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 15 q13.2 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 p22.1 dup ZNF815/OCM (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 12 q24.12 dup ACAD10/ALDH2 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 21/8290 in cases; 15/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 6 q27 dup THBS2/AK055570 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 8 p23.2 del CSMD1 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 p21 dup SRBD1/PRKCE (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 10/8290 in cases; 9/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 16 p13.11 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 8/8290 in cases; 6/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 p11.2 dup POLR1A/PTCD3 (6 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 11/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 4 q13.1 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q36.2 dup DPP6 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 7/8290 in cases; 3/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 p13.2 dup NUP155/WDR70 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 7/8290 in cases; 4/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 11 p11.12 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 17/8290 in cases; 15/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 10 q25.1 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 12/8290 in cases; 7/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 4 q13.1 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 3/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 19 q13.42 dup VSTM1/OSCAR (>10 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 11 q13.4 dup ARAP1/STARD10 (5 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q37.3 dup GP3ST/PDCD1 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 17 q25.3 dup ENPP7/CBX2 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 p14.1 dup CDC2L5 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 q35.3 dup RAB24/LMAN2 (14 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 11 q13.1 dup FBXL11/ADRBK1 (>10 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 17 p11.2 del KCNJ12 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 8 q24.23 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 12 p13.31 dup CD4/CPR162 (>10 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 1 q21.1 dup PPIAL4G (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 0/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q37.3 dup ATG4B/ING5 (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 q12 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 6 p21.33 del MICA/HCP5 (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 4/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 1 q21.1 dup NBPF1/PDE4DIP (>10 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 17/8290 in cases; 8/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 12 p12.2-12p12.1 del SLCO1B3/SLCO1B1 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 7/8290 in cases; 3/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 22 q12.3 dup MYH9/TXN2 (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 9/8290 in cases; 4/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 14 q21.2 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 7/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 14 q21.2 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 9/8290 in cases; 7/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 15 q11.2 dup TUBGCP5/CYFIP1 (8 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 23/8290 in cases; 16/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 19 p13.2 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 18/8290 in cases; 15/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q31.2-7q31.31 dup CTTNBP2/ANKRD7 (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 3/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 q21.3 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 5/8290 in cases; 3/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 p11.2 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 p15.33 dup CLPTM1L/LPCAT1 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 16 q23.2 dup PKD1L2/BCMO1 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 p13.1 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 8/8290 in cases; 7/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 16 p12.1 dup AK055742 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 13/8290 in cases; 11/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q11.21 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 4/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 p12-9p11.2 dup CBWD5/FOXD4L4 (-) Duplications of the VIPR2 gene confer significant risk for schizophrenia 8/8290 in cases; 10/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 8 p23.1 dup BC035792/AK307256 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 17/8290 in cases; 12/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 1 p21.1 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 7/8290 in cases; 6/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 q32 dup ORM1/AKNA (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 p21.1 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 11/8290 in cases; 12/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q13 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 4/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 1 p31.1 del BC041341 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 1 q31.1 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 15 q11.2 del GOLGA8E/LOC283767 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 18/8290 in cases; 18/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 16 p12.3 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 3/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 13 q21.31 del OR7E156P (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 15/8290 in cases; 17/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 p15.2 del AY328033/AY330599 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 4/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 p15.1 dup AX747780/BC036244 (7 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 9/8290 in cases; 16/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 13 q14.11 dup EPSTI1/DNAJC15 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 6/8290 in cases; 12/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 q35.3 dup MGAT1 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 5/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 5 q35.3 dup DQ579975 (1 gene) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 6/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q11.2 dup LOC729234/LOC150763 (4 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 2/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 2 q37.1 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 4 q32.2 dup - Duplications of the VIPR2 gene confer significant risk for schizophrenia 2/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 6 q25.3 dup TAGAP/CR618966 (2 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 2/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 7 q11.21-7q11.22 dup TYW1/hPMS6 (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 p12 dup FAM75A5/FAM75A7 (3 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 3/8290 in cases; 2/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 9 q34.11 dup FPGS/ENG (9 genes) Duplications of the VIPR2 gene confer significant risk for schizophrenia 2/8290 in cases; 1/7431 in controls Vacic 2011 21346763 NimbleGen HD2 Array-CGH/Affymetrix Genome-Wide Human SNP Array 6.0 8290 7431 Sporadic American 16 p12.3 del - Duplications of the VIPR2 gene confer significant risk for schizophrenia 2/8290 in cases; 2/7431 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 1 q21.1 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 4/1505 in SZ cases; 2/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 1 q21.1 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 1/1505 in SZ cases; 1/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 2 p21-16.3 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 3/1505 in SZ cases; 0/834 in BP cases; 2/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 2 p21-16.3 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 1/1505 in SZ cases; 0/834 in BP cases; 0/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 3 q29 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 2/1505 in SZ cases; 0/834 in BP cases; 0/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 3 q29 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 1/1505 in SZ cases; 0/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 7 q36.3 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 1/1505 in SZ cases; 0/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 15 q11.2 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 2/1505 in SZ cases; 0/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 15 q13.2 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 2/1505 in SZ cases; 1/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 15 q13.2 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 8/1505 in SZ cases; 2/834 in BP cases; 5/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 16 p11.2 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 1/1505 in SZ cases; 0/834 in BP cases; 0/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 16 p11.2 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 9/1505 in SZ cases; 1/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 16 p13.11 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 0/1505 in SZ cases; 0/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 16 p13.11 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 7/1505 in SZ cases; 3/834 in BP cases; 6/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 17 q25.1 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 8/1505 in SZ cases; 4/834 in BP cases; 8/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 21 q11.2 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 6/1505 in SZ cases; 1/834 in BP cases; 4/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 21 q11.2 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 2/1505 in SZ cases; 3/834 in BP cases; 4/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 22 q11 del NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 4/1505 in SZ cases; 0/834 in BP cases; 1/2087 in controls Bergen 2012 22688191 Affymetrix 6.0 chips/Affymetrix 5.0 chip 1505 2087 Sporadic Swedish + Finnish 22 q11 dup NA deletions were enriched in SZ, but not bipolar disorder cases compared with control 0/1505 in SZ cases; 0/834 in BP cases; 3/2087 in controls Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 1 q21.1 del HFE2/TXNIP (16 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr1:144101459-144503409 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 1 q43 del RYR2 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr1:235475280-235639644 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 2 q21.2 del NAP5 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr2:133504420-133879778 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 3 q13.12 dup DZIP3/GUCA1C (9 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr3:109330592-110198715 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 3 q29 del TFRC/TNK2 (21 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr3:197185548-198825231 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 4 q13.3 del HTN1/HTN3 (3 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr4:70935504-70969553 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 4 q21.21 del BMP2K/PAQR3 (3 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr4:79944612-80081979 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 6 q12 dup - defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr6:68675955-68761101 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 7 p14.1 del TARP/LOC100506776 (2 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr7:38260614-38307187 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 7 q11.23 dup GTF21/ELN (38 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr7:72390286-76445231 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 7 q32.1 del C7orf54/SND1 (3 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr7:127275795-127447967 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 8 p23.2 del CSMD1 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr8:4121968-4299810 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 8 p23.1 del MSRA (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr8:10066862-10155414 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 9 p22.3 del - defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr9:16310745-16327782 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 9 q31.3 dup EPB41L4B/PTPN3 (4 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr9:110859131-111433199 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 9 q34.3 dup EHMT1 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr9:139762152-139797423 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 9 q34.3 del EHMT1 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr9:139769564-139792102 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 11 q14.1 del DLG2 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr11:83472750-83842973 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 11 q14.1 del DLG2 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr11:84006106-84226064 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 12 q24.13 del RPH3A (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr12:111723795-111776045 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 12 q24.33 dup LOC338797 (1 gene) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr12:130388037-130659530 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 13 q14.11 del SUGT1L1/ELF1 (8 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr13:40319620-41182276 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 14 q13.2 del SRP54/PPP2R3C (4 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr14:34464771-34627720 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q11.2 del TUBGCP5/CYFIP1 (8 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:19548923-20852202 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q11.2 dup TUBGCP5/CYFIP1 (7 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:20224751-20777909 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q11.2 dup TUBGCP5/CYFIP1 (8 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:20224751-20852202 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q11.2 del TUBGCP5/CYFIP1 (7 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:20302446-21038975 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q13.1 dup APBA2/NDNL2 (4 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:26785056-28289366 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q13.3 del TRPM1/OTUD7A (7 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:28707904-30326817 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 15 q13.3 del TRPM1/OTUD7A (7 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr15:28707904-30299500 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 16 p11.2 dup IMAA/TREM219 (31 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr16:29488112-30099396 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 18 p11.31 del DLGAP1/FLJ35776 (6 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr18:3515935-4332609 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 20 p12.1 del MACROD2/CR596518 (2 genes) defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr20:14694326-14863051 Kirov 2012 22083728 Affymetrix 6.0 arrays/Illumina bead arrays Familial cases: 662 affected offsprings (trios) Familial cases: 2623 unaffected offsprings (trios) Familial Bulgarian + Icelandic 21 q21.1 del - defects in NMDAR postsynaptic signalling and, possibly, ARC complexes play a significant role in the pathogenesis of schizophrenia hg18/chr21:22698250-22778244 Liao 2012 22682706 comparative genomic hybridization + RT-PCR + FISH 60 unrelated patients and their family members - Familial Chinese 6 q12-q13 del SMAP1/KCNQ5 (> 10 genes) provides additional support to other studies reporting that schizophrenia is part of the clinical spectrum of 15q11-15q13 duplication syndrome 4 patients of this family have this deletion Liao 2012 22682706 comparative genomic hybridization + RT-PCR + FISH 60 unrelated patients and their family members - Familial Chinese 18 q12.3 dup PIK3C3/SYT4 (5 genes) provides additional support to other studies reporting that schizophrenia is part of the clinical spectrum of 15q11-15q13 duplication syndrome 4 patients of this family have this deletion Liao 2012 22682706 comparative genomic hybridization + RT-PCR + FISH 60 unrelated patients and their family members - Familial Chinese 15 q11.2-q13.1 dup POTEB/KLF13 (>10 genes) provides additional support to other studies reporting that schizophrenia is part of the clinical spectrum of 15q11-15q13 duplication syndrome 2 patients of this family have this deletion Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 9 p21.3 del NA regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex this CNV is larger than 500k bp Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 11 q22.1 del NA regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex this CNV is larger than 501k bp Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 16 p11.2 del NA regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex this CNV is larger than 502k bp Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 1 q31.2 dup NA regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex this CNV is larger than 503k bp Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 1 q21.1 del NBPF1/PDZK1 (>10 genes) regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex 2/151 in cases; 0/173 in controls Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 15 q13.3 del DKPZp434L187 (1 gene) regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex 1/151 in cases; 3/173 in controls Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 22 q11.2 del small mutations regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex 2/151 in cases; 3/173 in controls Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 22 q11.2 dup small mutations regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex 2/151 in cases; 6/173 in controls Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 2 p24.3 del - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 7 p12.3 del - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 7 q32.1 del - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 22 q13.31 del - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 22 q13.31 dup - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 2 q23.3 dup - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 5 q21.1 dup - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 8 q11.22 dup - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Liu 2012 23285208 Illumina Infinium HumanOmni1-Quad assay 151 173 Sporadic American 15 q22.2 dup - regional CNVs at 22q13.31, no matter the size, may influence the risk of schizophrenia with a remarkably increased mutation rate and with reduced gray matter concentration in the peri-limbic cortex potential difference in patients Ye 2012 22795968 Illumina 1M Duo SNP chips 193 159 Sporadic American 1 q21.1 del NBPF1/FMO5 (>10 genes) - 1/193 in cases Ye 2012 22795968 Illumina 1M Duo SNP chips 193 159 Sporadic American 11 q25 del GLB1L3/GLB1L2 (2 genes) - 1/193 in cases; 1/159 in cases Ye 2012 22795968 Illumina 1M Duo SNP chips 193 159 Sporadic American 15 q11.2 del CDH18/AK093362 (2 genes) - 1/193 in cases Ye 2012 22795968 Illumina 1M Duo SNP chips 193 159 Sporadic American 22 q11.21 del COMT/HIRA (>20 genes) - 1/193 in cases Aleksic 2013 24002029 comparative genomic hybridization + FISH 300 + 531 711 Sporadic Japanese 7 q36.3 dup VIPR2 (1 gene) - - Bloom 2013 23507357 comparative genomic hybridization 2 families with monozygotic twins discordant for psychiatric disorders - Familial Swedish - - - - no differences in copy number variants between the sets of twins limited by technology and sample size Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 1 q21.1 dup BCL9/GJA5 (>10 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 2/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 2 q13 del ANAPC1/BCL2L11 (10 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 2 q13 dup ANAPC1/BCL2L11 (10 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 2/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 3 q13.31 del DRD3/GAP43 (7 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 5 p15.33-p15.32 del IRX1/IRX2 (9 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 10 q11.22-q11.23 dup CHAT/ERCC6 (52 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 15 q11-q13 dup GABRB3/GABRA5 (>100 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 3/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 15 q13.2-q13.3 del CHRNA7/TRPM1 (10 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 16 p11.2 dup DOC2A/MAPK3 (>25 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 4/454 in cases; CNVs < 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 6 p25.3-p25.1 del FOXC1/GMDS (41 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 6.5 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 7 q22.2-q31.1 del COG5/DOCK (37 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 6.6 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 8 p23.3-p23.1 del ANGPT2/CLN8 (25 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 6.7 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 19 p13.3-p13.2 dup NMT1/DOCK6 (280 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 6.8 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian X XX dup IL1RAPL1/SYN1 (975 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 2/454 in cases; CNVs > 6.9 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian X XY dup IL1RAPL1/SYN1 (975 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 6.10 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian X YY dup IL1RAPL1/SYN1 (975 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 6.11 Mb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 1 q21.1 dup PDE4DIP/PDZK1 (21 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 1 q43 dup RYR2 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 2 p25.3 dup MYT1L/KIAA1106 (3 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 2 q11.1 dup KCNIP3/FAHD2A (8 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 2 q22.1 del LRP1B (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 2 q32.1 del ZNF804A (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 3 p12.1 del - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 4 q25-q26 dup ANK2/NEUROG2 (2 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 4 q33-q34.1 del - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 4 q34.3-q35.1 dup ODZ3/DCTD (6 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 5 p15.1 dup - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 5 p13.2 dup NUP155/WDR70 (2 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 5 q13.3-q14.1 dup OTP/PDE8B (20 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 6 q11.1 dup KHDRBS2/MTRNR2L9 (2 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 2/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 6 q14.3 dup - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 6 q16.2-q16.3 dup POU3F2/FBXL4 (9 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 7 p21.3 dup PER4 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 7 p21.3 del PER4 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 7 q31.31 dup KCND2 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 8 p23.3 dup C8orf42/ERICH1 (2 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 8 p11.21-p11.1 dup HGSNAT/POTEA (2 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 8 q12.1 dup CA8/RAB2A (2 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 8 q21.3 dup - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 9 p21.1 del - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 9 p13.3-p13.2 del CLTA/GNE (5 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 9 p12 dup FAM75A5/ZNF658B (6 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 9 p11.2 dup - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 9 q12 del - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 9 q21.11-q21.12 del KLF9/TRPM3 (4 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 10 p11.22 dup NRP1 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 11 q22.1 del - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 12 p11.1 dup - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 12 q21.31 dup LIN7A/ACSS3 (6 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 12 q21.31 del LIN7A/ACSS3 (5 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 13 q13.1-q13.2 del KL/NBEA (5 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 13 q21.32-q21.33 dup - Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 14 q21.1-q21.3 dup LRFN5 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 15 q12-q13.1 dup GABRB3/GABRA5 (5 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 15 q13.2 dup CHRFAM7A/BC037839 (7 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 16 p13.11 dup NDE1/NOMO3 (>20 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 2/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 16 p11.1-p11.2 dup LINC01566/TP53TGHP (4 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 17 p13.1 dup C17orf48/PIRT (5 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 19 q12 del C19orf12/ZNF536 (10 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 20 p12.1 del MACROD2 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian 22 q12.1 del PITPNB/TTC28 (6 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian X p21.3-p21.2 del IL1RAPL1/MAGEB2 (11 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian X q11.1 dup FAM123B/MTMR8 (3 genes) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Costain 2013 23813976 Affymetrix 6.0 platform + qPCR 454 416 Sporadic Canadian X q21.31 dup KLHL4 (1 gene) Rare 1.7 Mb CNVs at 2q13 were found to be significantly associated with schizophrenia 1/454 in cases; CNVs > 500 kb Guha 2013 23325106 Affymetrix 6.0 arrays + Illumina HumanOmni1-Quad arrays 790 + 12398 + Familial cases: 662 affected offsprings (trios) 1347 + 17945 Sporadic + Familial Ashkenazi Jewish + Bulgaria. 2 p16.3 del NRXN1 (1 gene) A rare deletion at distal 16p11.2 is implicated in schizophrenia 0/790 in cases; 1/1347 in controls Guha 2013 23325106 Affymetrix 6.0 arrays + Illumina HumanOmni1-Quad arrays 790 + 12398 + Familial cases: 662 affected offsprings (trios) 1347 + 17945 Sporadic + Familial Ashkenazi Jewish + Bulgaria. 3 q29 del TFRC/ZDHHC19 (>10 genes) A rare deletion at distal 16p11.2 is implicated in schizophrenia 1/790 in cases; 0/1347 in controls Guha 2013 23325106 Affymetrix 6.0 arrays + Illumina HumanOmni1-Quad arrays 790 + 12398 + Familial cases: 662 affected offsprings (trios) 1347 + 17945 Sporadic + Familial Ashkenazi Jewish + Bulgaria. 15 q11-13 dup SNRPN/UBE3A (>10 genes) A rare deletion at distal 16p11.2 is implicated in schizophrenia 1/790 in cases; 0/1347 in controls Guha 2013 23325106 Affymetrix 6.0 arrays + Illumina HumanOmni1-Quad arrays 790 + 12398 + Familial cases: 662 affected offsprings (trios) 1347 + 17945 Sporadic + Familial Ashkenazi Jewish + Bulgaria. 16 p13.11 dup NDE1/MYH11 (>10 genes) A rare deletion at distal 16p11.2 is implicated in schizophrenia 2/790 in cases; 3/1347 in controls Guha 2013 23325106 Affymetrix 6.0 arrays + Illumina HumanOmni1-Quad arrays 790 + 12398 + Familial cases: 662 affected offsprings (trios) 1347 + 17945 Sporadic + Familial Ashkenazi Jewish + Bulgaria. 16 p11.2 dup IMAA/TREM219 (>10 genes) A rare deletion at distal 16p11.2 is implicated in schizophrenia 1/790 in cases; 0/1347 in controls Guha 2013 23325106 Affymetrix 6.0 arrays + Illumina HumanOmni1-Quad arrays 790 + 12398 + Familial cases: 662 affected offsprings (trios) 1347 + 17945 Sporadic + Familial Ashkenazi Jewish + Bulgaria. 22 q11.21 del DGCR6/DGCR2 (>10 genes) A rare deletion at distal 16p11.2 is implicated in schizophrenia 2/790 in cases; 1/1347 in controls Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 1 q21.1 del BCL9/ACP6 (>10 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 3/1637 in cases; 1/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 2 p16.3 del NRXN1/DKFZp313P2036 (2 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 10/1637 in cases; 5/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 2 p16.3 dup NRXN1/DKFZp313P2036 (2 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 1/1637 in cases; 0/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 7 q36.3 dup VIPR2/LINC00689 (4 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 1/1637 in cases; 0/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 15 q11.2 del TUBGCP5/CYFIP1 (9 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 2/1637 in cases; 3/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 16 p13.11 del NDE1/MYH11 (>10 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 3/1637 in cases; 3/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 16 p13.11 dup NDE1/MYH11 (>10 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 2/1637 in cases; 0/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 16 p11.2 dup IMAA/TREM219 (>10 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 1/1637 in cases; 0/1627 in cases Priebe 2013 23843933 Illumina BeadChips 1637 1627 Sporadic German 22 q11.21 del DGCR6/DGCR2 (>10 genes) the group of CNVs previously reported to be associated with SZ was more frequent in our patients than in the controls 2/1637 in cases; 0/1627 in cases Rippey 2013 24094746 comparative genomic hybridization + exome sequencing 124 290 Sporadic American 17 q23.3 del MAP3K3/DDX42 (5 genes) rare chimeric genes as a group contribute to schizophrenia 1/124 in cases; MAP3K3, DDX42 expressed in brain Rippey 2013 24094746 comparative genomic hybridization + exome sequencing 124 290 Sporadic American 16 q12.1 dup DNAJA2/NETO2 (2 genes) rare chimeric genes as a group contribute to schizophrenia 1/124 in cases; DNAJA2, NETO2 expressed in brain Rippey 2013 24094746 comparative genomic hybridization + exome sequencing 124 290 Sporadic American 14 q24.1 dup SLC39A9/PLEKHD1 (2 genes) rare chimeric genes as a group contribute to schizophrenia 1/124 in cases; SLC39A9, PLEKHD1 expressed in brain Rippey 2013 24094746 comparative genomic hybridization + exome sequencing 124 290 Sporadic American 19 p13.3 dup MATK/ZFR2 (2 genes) rare chimeric genes as a group contribute to schizophrenia 1/124 in cases; MATK, ZFR2 expressed in brain Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 4 q13.1-4q13.3 dup LEC3/EPHA5 (>10 genes) chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 1/3518 in cases Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 8 dup dup - chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 1/3518 in cases; duplication of chr8 Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 7 qdel del - chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 1/3518 in cases; deletion of the long arm of chr7 Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 1 q21.1-1q44 dup - chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 1/3518 in cases Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 5 q15-5q23.1 del - chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 1/3518 in cases Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 9 p11.2-9q12 dup - chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 3/3518 in cases Ruderfer 2013 23321615 Affymetrix array 3518 (International Schizophrenia Consortium) 4238 (International Schizophrenia Consortium) European 1 p12-1q21.1 dup - chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects 2/3518 in cases Szatkiewicz 2013 23938935 Illumina Human Exome Bead Chip 3692 5138 Sporadic Swedish 11 q12.2 del MS4A10/CCDC86 (2 genes) strongly confirm the association of schizophrenia with 16p11.2 duplications and 22q11.2 deletions 6/3692 in cases; 0/5138 in controls Szatkiewicz 2013 23938935 Illumina Human Exome Bead Chip 3692 5138 Sporadic Swedish 1 q21.1-1q21.2 del BCL9/CHD1L (>10 genes) strongly confirm the association of schizophrenia with 16p11.2 duplications and 22q11.2 deletions identified by GWAS and Exome array Szatkiewicz 2013 23938935 Illumina Human Exome Bead Chip 3692 5138 Sporadic Swedish 3 q29 del WDR53/LRRC33 (>10 genes) strongly confirm the association of schizophrenia with 16p11.2 duplications and 22q11.2 deletions identified by GWAS and Exome array Szatkiewicz 2013 23938935 Illumina Human Exome Bead Chip 3692 5138 Sporadic Swedish 15 q13.2-15q13.3 del KLF13/OTUD7A (>10 genes) strongly confirm the association of schizophrenia with 16p11.2 duplications and 22q11.2 deletions identified by GWAS and Exome array Szatkiewicz 2013 23938935 Illumina Human Exome Bead Chip 3692 5138 Sporadic Swedish 16 p11.2 dup CDIPT/ASPHD1 (>10 genes) strongly confirm the association of schizophrenia with 16p11.2 duplications and 22q11.2 deletions identified by GWAS and Exome array Szatkiewicz 2013 23938935 Illumina Human Exome Bead Chip 3692 5138 Sporadic Swedish 22 q11.2 del COMT/HIRA (>10 genes) strongly confirm the association of schizophrenia with 16p11.2 duplications and 22q11.2 deletions identified by GWAS and Exome array Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 2 p25.3 dup LOC339822/SNTG2 (>5 genes) - this case (2.1) has 4 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 2 p25.3 dup MYT1L/PXDN (2 genes) - this case (2.1) has 4 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 2 p16.3 del NRXN1 (1 gene) - this case (2.1) has 4 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 3 q12.2 dup GPR128/TFG (3 genes) - - Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 4 p16.1 dup SLC2A9/WDR1 (>5 genes) - this case (1.1) has 4 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 9 q34.3 dup ABCA2/C9orf139 (>3 genes) - this case (1.1) has 4 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 19 p13.3 dup SYK11/CBARP (>3 genes) - this case (1.1) has 4 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 20 q13.12 del SPINT4 (1 gene) - this CNV was found in case 1.1 and 2.1 Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 7 q34 dup TTC26 (1 gene) - - Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 12 q24.31 dup RILPL1/RILPL2 (>5 genes) - this cases (4.1) has 2 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 16 p13.2 dup C16orf72/USP7 (2 genes) - this cases (4.1) has 2 CNVs Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 16 q23.1 del ADAMTS18/SYCE1L (2 genes) - - Van Den Bossche 2013 23637818 HumanOmniExpress 12v1.0 BeadChip 8 schizophrenia families - Familial Belgium 19 q13.42 del NLRP12/MIR373 (2 genes) - - Zhao 2013 22317777 Affymetrix 500K/6.0 SNP arrays + RT-PCR 2058 3275 Sporadic Chinese 15 q11.2 del TUBGCP5/CYFIP1 (>5 genes) triple increase of 15q11.2 deletions in cases over controls of schizophrenia 12/2058 in cases; 6/3275 in controls Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 2 p25.3 dup PXDN/MYT1L (2 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from mother Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 2 p25.3 dup PXDN/MYT1L (2 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni Unknown Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 2 p16.3 del NRXN1/DKFZp313P2036 (2 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni Unknown Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 8 q11.2 dup RB1CC1/NPBWR1 (3 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni Unknown Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 10 q22.3 del FAM22A/CR592318 (5 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 15 q11.2 del OR4N4/HERC2P3 (24 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni Unknown Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 15 q11.2 del CYFIP1/NIPA1 (13 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from mother Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 15 q13.3 del CHRNA7/DKFZp434L187 (26 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 15 q13.3 del CHRNA7/DKFZp434L187 (30 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from mother Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 16 p12.1 del METTL9/OTOA (7 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from father Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 16 p11.2 dup ASPHD1/TMEM219 (15 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from father Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 16 p11.2 dup ASPHD1/TMEM219 (34 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from father Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 17 q21.3 dup MAPT/KIAA1267 (4 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni inherited from father Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 22 q11.2 del COMT/TRMT2A (49 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 22 q11.2 del COMT/TRMT2A (48 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 22 q11.2 del COMT/TRMT2A (46 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni Unknown Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 22 q11.2 del COMT/TRMT2A (47 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 22 q11.2 del COMT/TRMT2A (55 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Ahn 2014 23689535 Illumina Human or HumanOmni 2.5S BeadChip 126 childhood onset schizophrenia cases 69/126 health siblings Familial American 22 q13.31 dup CRELD2/BRD1 (4 genes) the rate of 22q11.2, 2p25.3, 15q13.3 and 16p11.2 in this cohort is higher than adult onset schizophreni De novo Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 6 q14.1 del - - this affected case (1A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 7 q31.1 del - - this affected case (1A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 14 q21.2 del - - this affected case (1A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 17 q21.31 del PYY (1 gene) - this affected case (1A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 11 p15.1 dup - - this affected case (2A) has 1 unique CNV Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 3 p11.2-3p11.1 del EPHA3 (1 gene) - this affected case (3A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 7 q11.21 del CCT6P1/SNORA22 (4 genes) - this affected case (3A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 11 p15.4 del OR52N2/TRIM5 (2 genes) - this affected case (3A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 16 p11.1-p11.2 dup LOC283914/LOC146481 (3 genes) - this affected case (3A) has 4 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 2 q11.2 del C2orf55 (1 gene) - this affected case (4A) has 3 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 3 q25.1 del - - this affected case (4A) has 3 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 16 q23.2 del - - this affected case (4A) has 3 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 16 p12.3 del GPR139 (1 gene) - this affected case (5A) has 2 unique CNVs Castellani 2014 24556202 Affymetrix Human SNP 6.0 array + RT-PCR 6 monozygotic twins discordant for schizophrenia - Familial Canadian 17 q21.31 del PYY (1 gene) - this affected case (5A) has 2 unique CNVs Georgieva 2014 25055870 HumanOmni Express-12v1/HumanOmniExpressExome-8v1 Familial cases: 76 affected offsprings (trios or quarters) - Familial Belgium and UK 1 q41 del DISP1/AIDA (6 genes) de novo CNVs play a smaller role in BD compared with SZ de novo CNV Georgieva 2014 25055870 HumanOmni Express-12v1/HumanOmniExpressExome-8v1 Familial cases: 76 affected offsprings (trios or quarters) - Familial Belgium and UK 2 p16.3 del NRXN1 (1 gene) de novo CNVs play a smaller role in BD compared with SZ de novo CNV Georgieva 2014 25055870 HumanOmni Express-12v1/HumanOmniExpressExome-8v1 Familial cases: 76 affected offsprings (trios or quarters) - Familial Belgium and UK 15 q24.3 dup PSTPIP1/TSPAN3 (2 genes) de novo CNVs play a smaller role in BD compared with SZ de novo CNV Georgieva 2014 25055870 HumanOmni Express-12v1/HumanOmniExpressExome-8v1 Familial cases: 76 affected offsprings (trios or quarters) - Familial Belgium and UK 22 q11.21 del HIRA/CLDN5 (>20 genes) de novo CNVs play a smaller role in BD compared with SZ de novo CNV Georgieva 2014 25055870 HumanOmni Express-12v1/HumanOmniExpressExome-8v1 Familial cases: 76 affected offsprings (trios or quarters) - Familial Belgium and UK 22 q11.22 del ZNF280B/PRAME (5 genes) de novo CNVs play a smaller role in BD compared with SZ de novo CNV Georgieva 2014 25055870 HumanOmni Express-12v1/HumanOmniExpressExome-8v1 Familial cases: 76 affected offsprings (trios or quarters) - Familial Belgium and UK 22 q11.22-22q11.23 del IGLL5/RTDR1 (5 genes) de novo CNVs play a smaller role in BD compared with SZ de novo CNV Ionita-Laza 2014 24344280 Affymetrix GenomeWide Human SNP Array 5.0 146 Afrikaner SZ trios and 85 Caucasian 85 SZ trios - Familial Afrikaner and Caucasian 15 q13.3 del FAN1 (1 gene) FAN1 is a key driver in the 15q13.3 locus for the associated psychiatric and neurodevelopmental phenotypes - Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 1 q21.1 del NBPF19/CHD1L (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 33/19056 in cases; 17/81821 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 1 q21.1 dup NBPF19/CHD1L (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 21/16244 in cases; 24/64046 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 2 p16.3 del NRXN1 (1 gene) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 33/18759 in cases; 10/51161 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 2 q23.1 del ORC4L/MBD5 (3 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 3 q29 del WDR53/LRRC33 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 14/17005 in cases; 1/69965 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 5 q35.2-5q35.3 dup SNCB/UIMC1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 7 q11.23 dup BCL7B/TBL2 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 14/21269 in cases; 2/34455 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 8 p23.1 del MFHAS1/TNKS (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 10 q23 dup NRG3/CDHR1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 0/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 15 q11.2 del CYFIP1/NIPA2 (4 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 116/19547 in cases; 227/81802 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 15 q11-15q13 dup CABRB3/CABRB5 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 12/15266 in cases; 5/60148 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 15 q13.3 del KLF13/OTUD7A (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 26/18571 in cases; 15/80422 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 15 q13.3 dup KLF13/OTUD7A (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 10/13465 in cases; 7/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 15 q13.3 (CHRNA7) del OTUD7A/CHRNA7 (2 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 2/13465/ in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 15 q13.3 (CHRNA7) dup OTUD7A/CHRNA7 (2 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 83/13465 in cases; 131/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p13.11 del MYH11/NDE1 (>10 gebes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 10/13465 in cases; 7/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p13.11 dup MYH11/NDE1 (>10 gebes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 37/12029 in cases; 93/69289 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p12.1 del VWA3A/EEF2K (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 24/13465 in cases; 9/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p12.1 dup VWA3A/EEF2K (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 5/13465 in cases; 9/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p11.2 distal del SH2B1/RABEP2 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 13/20732 in cases; 5/27045 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p11.2 distal dup SH2B1/RABEP2 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 5/13465 in cases; 10/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p11.2 del KIF22/MVP (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 5/16772 in cases; 26/63068 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 16 p11.2 dup KIF22/MVP (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 58/16772 in cases; 19/63608 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 17 p13.3 dup YWHAE (1 gene) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 3/13465 in cases; 3/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 17 p11.2 dup PEMT/SREBF1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 17 q11.2 dup NF1/ADAP2 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 17 q12 del ACACA/LHX1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 5/14024 in cases; 4/74447 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 17 q12 dup ACACA/LHX1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 6/13465 in cases; 4/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 17 q21.31 dup CRHR1/MAPT (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 0/17873 in controls Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 22 q11.21 del HIRA/TBX1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 26/19084 in cases; 0/77055 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 22 q11.21 dup HIRA/TBX1 (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 3/15583 in cases; 25/33449 in controls (contain other samples) Kirov 2014 23992924 multi-platform 13465 (6882 + 6583 prvious reported cases) 17873 (11255 + 6618prvious reported controls) Sporadic multi-source 22 q11.2 distal dup PPM1F/TOP3B (>10 genes) The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100 1/13465 in cases; 3/17873 in controls Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 7 q11.23 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 2/554 in Ashkenazi Jewish cases;11/14387 in cases; 1/28139 in controls (other meta samples) Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 22 q11 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 3/554 in cases; 2/292 in cases are de novo Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 16 p11 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 4/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 6 q24 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 2/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 20 q11 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 21 q22 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 2/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 11 p12 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 8 p22 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 2/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 10 q11.23-10q21.1 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 17 q12 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 2/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 7 q34-7q36 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 3 p21 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 16 p12 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 6 q22 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 5 q32 dup - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 3 q29 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Mulle 2014 23871472 Affymetrix Human Genome-Wide SNP Array 6.0 554 (292 with both parents) 1014 Sporadic + Familial Ashkenazi Jewish 13 q31 del - Reciprocal duplication of the Williams syndrome deletion at chromosome 7q11.23 confers an approximately 10-fold increase in risk for SZ 1/554 in Ashkenazi Jewish cases Rees 2014 24217254 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 14612 Sporadic multi-source 22 q11.2 dup COMT/TBX1 (>10 genes) 22q11.2 duplications represent the first putative protective mutation for schizophrenia 0.014% of cases (21138) and 0.085% of controls (25867) Rees 2014 24217254 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 14612 Sporadic multi-source 22 q11.2 del COMT/TBX1 (>10 genes) 22q11.2 duplications represent the first putative protective mutation for schizophrenia 20/6882 in cases; 0/11255 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 1 q21.1 del FMO5/CHD1L (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 12/6882 in cases; 4/11255 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 1 q21.1 dup FMO5/CHD1L (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 8/6882 in cases; 7/11255 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 2 p16.3 del NRXN1 (1 gene) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 11/6882 in cases; 3/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 3 q29 del WDR53/LRRC33 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 4/6882 in cases; 0/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 7 q11.23 dup BCL7B/TBL2 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 3/6882 in cases; 1/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 7 q36.3 dup VIPR2 (1 gene) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 1/6882 in cases; 11/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 15 q11.2 del TUBGCP5/CYFIP1 (4 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 44/6882 in cases; 47/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 15 q11.2-15q13.1 dup ATP10A/GABRB3 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 8/6882 in cases; 0/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 15 q13.3 del OTUD7A/KLF13 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 4/6882 in cases; 3/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 16 p13.11 dup NDE1/MYH11 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 24/6882 in cases; 21/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 16 p11.2 distal del RABEP2/CD19 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 0/6882 in cases; 4/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 16 p11.2 dup KIF22/TMEM219 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 27/6882 in cases; 2/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 17 p12 del PMP22/TEKT3 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 4/6882 in cases; 5/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 17 q12 del ACACA/LHX1 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 1/6882 in cases; 0/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 22 q11.2 del HIRA/TBX1 (>10 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 20/6882 in cases; 0/11255 in controls (previous reported cases) Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 1 p36.33 dup GNB1/CALML6 (-) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 14/21138 in cases; 2/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 2 q37.3 dup AQP12A/KIF1A (2 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 74/21138 in cases; 64/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 4 q25 dup ELOVL6 (1 gene) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 7/21138 in cases; 1/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 4 q35.1-4q35.2 dup FAM149A/CYP4V2 (3 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 10/21138 in cases; 3/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 4 q35.2 del TRIML1/TRIML2 (2 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 12/21138 in cases; 5/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 5 q33.1 del IRGM/ZNF300 (3 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 7/21138 in cases; 1/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 6 q24.2 dup PHACTR2 (1 gene) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 10/21138 in cases; 3/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 9 p24.2 del GLIS3/GLIS3-AS1 (2 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 7/21138 in cases; 0/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 9 p24.2 del SLC1A1/SPATA6L (2 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 10/21138 in cases; 2/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 15 q21.3 dup CGNL1 (1 gene) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 79/21138 in cases; 50/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 16 p12.2? del PDZD9/EEF2K (11 genes) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 33/21138 in cases; 15/26529 in controls Rees 2014 24163246 Illumina HumanOmniExpress-12v1/8v1 array 6882 + 14256 11255 + 15274 Sporadic multi-source 18 q23 dup GALR1 (1 gene) 12 new loci were found to be associated with SZ, but only 16p12.1 del was significant in the replication dataset 5/21138 in cases; 0/26529 in controls Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 1 q21.1 del COMT/TBX1 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 33/19056 in cases; 17/81821 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 1 q21.1 dup COMT/TBX1 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 21/16247 in cases; 24/64046 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 2 p16.3 del NRXN1 (1 gene) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 33/18762 in cases; 10/51161 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 3 q29 del WDR53/LRRC33 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 14/17005 in cases; 1/69965 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 7 q11.23 dup BCL7B/TBL2 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 14/21269 in cases; 2/34455 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 7 q36.3 dup VIPR2 (1 gene) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 15/14218 in cases; 17/24815 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 15 q11.2 del TUBGCP5/CYFIP1 (4 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 116/19547 in cases; 227/81802 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 15 q11.2-15q13.1 dup ATP10A/GABRB3 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 12/14464 in cases; 3/47686 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 15 q13.3 del OTUD7A/KLF13 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 26/18571 in cases; 3/47686 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 16 p13.11 dup NDE1/MYH11 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 37/12029 in cases; 93/69289 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 16 p11.2 distal del RABEP2/CD19 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 13/20732 in cases; 5/27045 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 16 p11.2 dup KIF22/TMEM219 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 58/16772 in cases; 19/63068 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 17 p12 del PMP22/TEKT3 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 12/12773 in cases; 17/65402 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 17 q12 del ACACA/LHX1 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 5/14024 in cases; 4/74447 in controls (conbined results with previous studies) Rees 2014 24311552 Illumina HumanOmniExpress-12v1/8v1 array 6882 previous reported 6316 Sporadic multi-source 22 q11.2 del HIRA/TBX1 (>10 genes) higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs 56/19084 in cases; 0/77055 in controls (conbined results with previous studies) Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 1 p31.3-1p31.1 dup PDE4B (-) add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 3 p26.3 dup CHL1/CNTN6 (-) add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 5 q21.2-5q21.3 dup - add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 6 q22.1-6q22.2 dup GPRC6A (-) add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 8 p23.3-8p23.1 dup MCPH1 (-) add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 15 q11.2 del CYFIP1/NIPA1 (-) add evidence that 15q11.2 is involved in SZ etiology 3/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 17 p11.2 dup RNF112/ULK2 (-) add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 3 p12.2-3p12.1 del - add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Rudd 2014 25228354 Affymetrix SNP 6.0 arrays 166 52 Sporadic American 16 q22.3-6q24.3 dup COTL1/JPH3 (-) add evidence that 15q11.2 is involved in SZ etiology 1/166 in cases Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 1 q21.1 del NOTCH2NL/BCL9 (>10 genes) report a novel association for 17q12 duplications 5/4719 in cases; 1/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 2 p16.3 del NRXN1 (1 gene) report a novel association for 17q12 duplications 2/4719 in cases; 0/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 3 q29 del WDR53/LRRC33 (>10 genes) report a novel association for 17q12 duplications 6/4719 in cases; 0/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 15 q13.3 del OTUD7A/TRPM1 (>10 genes) report a novel association for 17q12 duplications 7/4719 in cases; 2/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 16 p13.11 del MYH11/ABCC1 (>10 genes) report a novel association for 17q12 duplications 3/4719 in cases; 4/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 16 p11.2 distal del NUPR1/CLN3 (>10 genes) report a novel association for 17q12 duplications 2/4719 in cases; 1/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 22 q11.2 del COMT/TBX1 (>10 genes) report a novel association for 17q12 duplications 6/4719 in cases; 0/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 1 q21.1 dup NOTCH2NL/BCL9 (>10 genes) report a novel association for 17q12 duplications 2/4719 in cases; 1/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 3 q29 dup WDR53/LRRC33 (>10 genes) report a novel association for 17q12 duplications 1/4719 in cases; 0/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 7 q11.23 dup BCL7B/TBL2 (>10 genes) report a novel association for 17q12 duplications 2/4719 in cases; 0/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 7 q36.3 dup VIPR2/LINC00689 (2 genes) report a novel association for 17q12 duplications 0/4719 in cases; 2/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 15 q13.3 dup OTUD7A/TRPM1 (>10 genes) report a novel association for 17q12 duplications 1/4719 in cases; 2/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 6 p13.11 dup MYH11/ABCC1 (>10 genes) report a novel association for 17q12 duplications 12/4719 in cases; 6/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 16 p11.2 distal dup NUPR1/CLN3 (>10 genes) report a novel association for 17q12 duplications 2/4719 in cases; 4/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 16 p11.2 dup TMEM219/KIF22 (>10 genes) report a novel association for 17q12 duplications 10/4719 in cases; 2/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 17 q12 dup ACACA/LHX1 (>10 genes) report a novel association for 17q12 duplications 5/4719 in cases; 1/5917 in controls Szatkiewicz 2014 24776740 Affymetrix 5.0/Affymetrix 6.0/Illumina OmniExpress 4719 5917 Sporadic Swedish 22 q11.2 dup COMT/HIRA (>10 genes) report a novel association for 17q12 duplications 0/4719 in cases; 3/5917 in controls Todarello 2014 24680031 Illumina BeadArrays/qPCR/CGH 276 + 359 affected patients with parent or siblings 635 Familial + Sporadic European 2 p16.3 del NRXN1 (1 gene) NRXN1 deletions are more frequent in patients with schizophrenia than in healthy individuals 7/635 in cases; 0/635 in controls Yuan 2014 24794882 multiplex fluorescence competitive PCR 1035 1535 Sporadic Chinese 7 q36.3 dup VIPR2 (1 gene) carriers ofmicroduplication genotypes of VIPR2 are predisposed to SCZ in Han Chinese 4/1035 in cases; 0/1535 in controls Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 15 q13.3 dup TRPM1/OTUD7A (-) - 2/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 16 p11.2 dup MAPK3/TMEM219 (-) - 4/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 7 q36.3 dup VIPR2 (-) - 1/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 15 q11.2 del CYFIP1/NIPA1 (-) - 2/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 15 q11.2 dup CYFIP1/NIPA1 (-) - 1/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 16 p13.11 del NDE1/ABCC6 (-) - 1/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 16 p13.11 dup NDE1/ABCC6 (-) - 2/514 in cases Rodriguez-Lopez 2015 25797897 Quantitative interspecies competitive PCR/MLPA/WES 514 - Sporadic Spanish 17 p12 dup CDRT4/COX10 (-) - 1/514 in cases Rudd 2015 25914809 Affymetrix 6.0 arrays 1 childhood-onset schizophrenia with both parents - Familial American 3 p12.2-3p12.1 del CADM2/POU1F1 (>10 genes) - inherited CNV Rudd 2015 25914809 Affymetrix 6.0 arrays 1 childhood-onset schizophrenia with both parents - Familial American 16 q22.3-16q24.3 dup TAF1C/CDH13 (>10 genes) - de novo CNV Rudd 2015 25914809 Affymetrix 6.0 arrays 1 childhood-onset schizophrenia with both parents - Familial American X q23-Xq28 del AIFM1/MBNL3 (>10 genes) - de novo CNV Biamino 2016 26620927 comparative genomic hybridization a family with neuropsychiatric disorders - Familial Italian 3 q29 del ATP13A4/OPA1 (10 genes) propose a novel contiguous gene syndrome due to a proximal 3q29 deletion hg19/chr3:193,046,853-194,407,385; all psychiatric individuals in this family have this deletion Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 1 q21.1 del COMT/TBX1 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 5/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 1 q21.1 dup COMT/TBX1 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 2/2416 in cases; 1/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 2 p16.3 del NRXN1 (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 2/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 3 q29 del WDR53/LRRC33 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 4/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 7 q11.23 dup BCL7B/TBL2 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 3/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 7 q36.3 dup VIPR2 (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 2/2416 in cases; 1/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 15 q11.2 del TUBGCP5/CYFIP1 (4 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 3/2416 in cases; 2/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 15 q11.2-15q13.1 dup ATP10A/GABRB3 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 1/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 15 q13.3 del OTUD7A/KLF13 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 7/2416 in cases; 1/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 16 p13.11 dup NDE1/MYH11 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 0/2416 in cases; 1/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 16 p11.2 dup KIF22/TMEM219 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 9/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 17 p12 del PMP22/TEKT3 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 0/2416 in cases; 1/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 17 q12 del ACACA/LHX1 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 1/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 22 q11.2 del HIRA/TBX1 (>10 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific 16/2416 in cases; 0/2393 in controls (European Ancestry) Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 2 p11.2 dup IGK (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.55683, significant; freq (African) 0.5452, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 14 q32.33 dup MIR4507/CRIP2 (6 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.53083, significant; freq (African) 0.53351, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 22 q11.22 dup IGL1/GGTLC2 (8 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.29867, significant; freq (African) 0.28564, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 14 q11.2 del TRA (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.02056, significant; freq (African) 0.03032, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 11 p15.4 del OR52N1/OR52N5 (4 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.23539, significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 7 p14.1 del TARP/TRG (2 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.01249, significant; freq (African) 0.01809, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 4 p16.3 dup ZNF595 (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.04474, significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 6 q12 del EYS (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.06993, significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 15 q15.3 del CATSPER2/CKMT1A (4 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.03043, significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 14 q11.2 dup FAM12A/FAM12B (7 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.01189 , significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 15 q13.2-15q13.3 dup ARHGAP11B/TRPM1 (5 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.04978, significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 10 q11.21-10q11.22 del GPRIN2/SYT1 (4 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) 0.16183, significant; freq (African) NA, not significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 2 p25.3 del - 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) NA, not significant; freq (African) 0.05789, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 15 q11.2 del PWRN2/PWRN4 (2 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) NA, not significant; freq (African) 0.22234, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 10 q21.1 del - 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) NA, not significant; freq (African) 0.01702, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 8 p11.23 del ADAM5P/ADAM3A (2 genes) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) NA, not significant; freq (African) 0.29096, significant Chen 2016 27244233 Affymetrix SNP Array 6.0 2416 + 998 + 2127 (previous reported) 2393 + 822 + 2491(previous reported) Sporadic European + African 4 q13.3 del ADAMTS3 (1 gene) 22q11.21, 11p15.4 and 15q13.2 appeared to be SZ-specific freq (European) NA, not significant; freq (African) 0.05851, significant Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 22 q11.2 del TANGO2/MED15 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 6/6588 in cases; 1/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 22 q11.2 dup TANGO2/MED15 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 0/6588 in cases; 3/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 1 q21.1-21.2 del FMO5/CHD1L (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 14/6588 in cases; 3/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 16 p11.2 dup TBX6/SLX1B (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 13/6588 in cases; 3/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 15 q11.2-13.1 dup CABRB3/CABRB5 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 5/6588 in cases; 0/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 7 q36.3 dup VIPR2 (1 gene) validated previously identified CNVs in European populations; discovered 3 new potetial loci 6/6588 in cases; 2/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 7 q11.23 dup STX1A/TBL2 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 3/6588 in cases; 0/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 2 p16.3 del NRXN1 (1 gene) validated previously identified CNVs in European populations; discovered 3 new potetial loci 3/6588 in cases; 0/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 15 q11.2 del TUBGCP5/CYFIP1 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 21/6588 in cases; 26/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 17 q12 del ACACA/LHX1 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 1/6588 in cases; 0/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 16 p13.11 dup MYH11/FOPNL (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 11/6588 in cases; 16/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 16 p11.2 distal del SPNS1/LAT (9 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 2/6588 in cases; 2/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 1 q21.1 dup BCL9/ACP6 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 3/6588 in cases; 4/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 15 q13.3 del CHRNA7/OTUD7A (7 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 1/6588 in cases; 1/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 17 qp12 del PMP22/TEKT3 (9 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 2/6588 in cases; 4/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 3 q29 del - validated previously identified CNVs in European populations; discovered 3 new potetial loci 0/6588 in cases; 0/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 1 p36.32 dup ARHGEF16/MEGF6 (>10 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 11/6588 in cases; 3/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 10 p12.1 dup ARMC4/MPP7 (2 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 3/6588 in cases; 0/11904 in controls Li 2016 26795442 Affymertrix/Illumina microarray 6588 11904 Sporadic Chinese 13 q13.3 dup CSNK1A1L/SUPT20H (3 genes) validated previously identified CNVs in European populations; discovered 3 new potetial loci 3/6588 in cases; 0/11904 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 1 q21.1 TAR del RNF115/POLR3C (>10 genes) intellectual disability CNVs were significantly enriched for SZ hg19/chr1:145394955-145807817; 8/20403 in cases; 7/26628 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 1 q21.1 TAR dup RNF115/POLR3C (>10 genes) intellectual disability CNVs were significantly enriched for SZ hg19/chr1:145394955-145807817; 23/20403 in cases; 16/26628 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 1 q21.1 del NBPF19/CHD1L (>10 genes) intellectual disability CNVs were significantly enriched for SZ hg19/chr1:146527987-147394444; 35/20403 in cases; 7/26628 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 1 q21.1 dup NBPF19/CHD1L (>10 genes) intellectual disability CNVs were significantly enriched for SZ hg19/chr1:146527987-147394444; 22/20403 in cases; 13/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 2 p16.3 del NRXN1 (1 gene) intellectual disability CNVs were significantly enriched for SZ 31/20403 in cases; 9/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 2 p16.1-2p15 dup KIAA1841/C2orf74 (6 genes) intellectual disability CNVs were significantly enriched for SZ 1/20403 in cases; 3/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 2 q11.2 del NEURL3/ARID5A (>10 genes) intellectual disability CNVs were significantly enriched for SZ 6/20403 in cases; 1/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 2 q13 del ACOXL/BCL2L11 (7 genes) intellectual disability CNVs were significantly enriched for SZ 3/20403 in cases; 1/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 2 q13 del ACOXL/BCL2L11 (7 genes) intellectual disability CNVs were significantly enriched for SZ 4/20403 in cases; 4/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 2 q37.3 del ANKMY1/KIF1A (>10 genes) intellectual disability CNVs were significantly enriched for SZ 1/20403 in cases; 0/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 3 p11.2 del CHMP2B/POU1F1 (2 genes) intellectual disability CNVs were significantly enriched for SZ 2/20403 in cases; 1/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 3 q28 del FGF12/FGF12-AS1 (2 genes) intellectual disability CNVs were significantly enriched for SZ 3/20403 in cases; 1/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 3 q29 del WDR53/LRRC33 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 14/20403 in cases; 1/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 7 q11.23 WBS dup LAT2/EIF4H (>10 genes) intellectual disability CNVs were significantly enriched for SZ 8/20403 in cases; 2/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 8 p23.1 del TNKS/MSRA (>10 genes) intellectual disability CNVs were significantly enriched for SZ 1/20403 in cases; 0/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 8 p23.1 dup TNKS/MSRA (>10 genes) intellectual disability CNVs were significantly enriched for SZ 2/20403 in cases; 0/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 10 q11.22-q11.23 dup WDFY4/LRRC18 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 5/20403 in cases; 0/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 12 p13.31 dup NOP2/IFFO1 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 1/20403 in cases; 0/26629 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 15 q11.2-15q13.1 dup SNRPN/UBE3A (>10 genes) intellectual disability CNVs were significantly enriched for SZ 17/20403 in cases; 0/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 15 q11.2 del CYFIP1/NIPA2 (4 genes) intellectual disability CNVs were significantly enriched for SZ 131/20403 in cases; 98/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 15 q13.3 del KLF13/OTUD7A (8 genes) intellectual disability CNVs were significantly enriched for SZ 20/20403 in cases; 5/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p13.11 del MYH11/FOPNL (>10 genes) intellectual disability CNVs were significantly enriched for SZ 12/20403 in cases; 12/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p13.11 dup MYH11/FOPNL (>10 genes) intellectual disability CNVs were significantly enriched for SZ 77/20403 in cases; 59/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p12.1 del VWA3A/EEF2K (>10 genes) intellectual disability CNVs were significantly enriched for SZ 33/20403 in cases; 12/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p11.2 distal del RABEP2/CD19 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 5/20403 in cases; 5/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p11.2 distal dup RABEP2/CD19 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 10/20403 in cases; 12/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p11.2 del TMEM219/KIF22 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 6/20403 in cases; 13/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 16 p11.2 dup TMEM219/KIF22 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 62/20403 in cases; 8/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 17 p11.2 dup TRIM16L/EPN2 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 2/20403 in cases; 0/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 17 q11.2 del NF1/ADAP2 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 0/20403 in cases; 1/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 17 q12 del ACACA/LHX1 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 2/20403 in cases; 0/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 17 q12 dup ACACA/LHX1 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 11/20403 in cases; 7/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 22 q11.2 del TANGO2/MED15 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 62/20403 in cases; 0/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 22 q11.2 dup TANGO2/MED15 (>10 genes) intellectual disability CNVs were significantly enriched for SZ 3/20403 in cases; 21/26630 in controls Rees 2016 27602560 HumanOmniExpress-12v1-1_B arrays/Illumina Omni arrays 6934 + previously published 13469 8751 + previously published 17877 Sporadic multi-source 22 q11.2 distal del PRAME/TOP3B (>10 genes) intellectual disability CNVs were significantly enriched for SZ 0/20403 in cases; 1/26630 in controls Zhou 2016 26968334 Illumina microarrays 136 childhood-onset schizophrenia cases 135 health siblings Familial not avaiable 15 q13.3 dup CHRNA7 (1 gene) 15q13.3 deletion exhibit pathogenicity for childhood-onset schizophrenia 2/136 cases in different familes with familial psychiatric disorder Glessner 2017 29191242 Illumina 1MDv3/Affymetrix 6.0 2917 (SZ + BD) + 965 1113 + 1467 Sporadic not avaiable 9 p24.3 dup DOCK8/KANK1 (2 genes) uncovered a structural variants in the locus of DOCK8/KANK1 shared by five neurodevelopmental disorders significantly associated with SZ, BD, ASD, ADHD and depression Glessner 2017 29191242 Illumina 1MDv3/Affymetrix 6.0 2917 (SZ + BD) + 965 1113 + 1467 Sporadic not avaiable 22 q11.22 del ZNF280A (1 gene) uncovered a structural variants in the locus of DOCK8/KANK1 shared by five neurodevelopmental disorders control enriched in Janssen SZ cohorts Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 1 p21.3 del DPYD (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 1 q21.1 del ZNF364/CD160 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 1 q21.1 dup ZNF364/CD160 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 1 q21.1 del BCL9/CHD1L (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 4/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 1 q42.2 del DISC1 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 0/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 1 q43 del CHRM3 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 p25.1-2p24.3 del CREB1/LPIN1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 p16.3 del NRXN1 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 p15 dup XPO1/CCT4 (8 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 q11.2 del NCAPH/TMEM127 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 q12.2-2q12.3 dup ST6GAL2 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 q12.2-2q12.3 del ST6GAL2 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 q21.1 del ARHGEF4/FAM168B (8 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 q23.1 del ORC4L/MBD5 (2 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 4/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 2 q32.1 del ZNF804A (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 3 p26.3 del CNTN4 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 0/1699 in cases; 3/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 3 p22.1 del ULK4 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 3 q24 del ZIC1/ZIC4 (2 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 3 q29 del PAK2/DLG1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 4 p14-4p13 dup RBM47/NSUN7 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 4 q22.2 del GRID2 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 6 q25.2 dup MIRF1L/OPRM1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 6 q26 del PARK2 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 14/1699 in cases; 3/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 7 q11.23 dup ELN/EIF4H (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 7 q21.11 del PCLO/SEMA3E (6 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 7 q22.1 del RELN (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 7 q31.1 dup IMMP2L/DOCK4 (7 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 7 q35 del CNTNAP2 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 0/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 7 q36.3 dup VIPR2/BC041429 (3 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 8 p23.2 del CSMD1/KIAA1890 (2 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 5/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 8 q22.2 del VPS13B (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 9 q22.33-9q31.2 del SMC2/ABCA1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 9 q33.1 del ASTN2/TRIM32 (2 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 3/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 10 p15.2-10p15.1 dup KLF6/TUBAL3 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 10 q11.22-10q11.23 dup GDF10/ANXA8 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 11 q14.1 del DLG2 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 3/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 11 q23.3-11q25 dup TIRAP/FEZ1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 12 p13.33 del CACNA1C (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 13 q12.12 del SACS/TNFRSF19 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 14 q13.1 del NPAS3 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 14 q31.1 del NRXN3 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q11.2 del TUBGCP5/CYFIP1 (-) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 10/1699 in cases; 4/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q11.2-15q13.1 dup SNRPN/UBE3A (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q13.1-q13.2 del APBA2/TJP1 (6 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q13.1-q13.2 dup APBA2/TJP1 (4 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 3/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q13.2-q13.3 dup KLF13/OTUD7A (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q13.3 dup OTUD7A/CHRNA7 (4 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 7/1699 in cases; 2/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q24.1-15q24.3 dup SNUPN/SIN3A (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 15 q26.3 dup LRRK1/CHSY1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p13.3 del CACNA1H/TPSAB1 (5 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p13.2 del A2BP1 (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p13.11 dup MYH11/NDE1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p13.11-16p12.3 dup ABCC1/XYLT1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p13.11 del MYH11/NDE1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p12.1 del VWA3A/EEF2K (8 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p12.1 dup VWA3A/EEF2K (8 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p11.2 del KIF22/MVP (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 16 p11.2 dup KIF22/MVP (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 3/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 17 p12 del PMP22/TEKT3 (7 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 17 p12 dup PMP22/TEKT3 (7 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 0/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 18 p11.23 del PTPRM (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 18 q21.1 del KATNAL2/DKFZp667C165 (2 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 19 q13.2-19q13.31 dup PSG1/PSG7 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 22 q11.21 del ZNF74/MED15 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 17/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 22 q11.22 del TOP3B/IGLV2-14 (4 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 22 q11.22-q11.23 dup BCR/IGLL1 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese 22 q11.23 dup GSTT1/DDT (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X XY dup whole genes in X chromosome (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 11/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X p22.33-Xp22.31 del NLGN4X/VCX3A (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X p22.31 del HDHD1A/STS (4 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 3/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X p22.31 dup HDHD1A/STS (4 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 5/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X p21.1 del DMD (1 gene) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 1/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X q22.3-Xq23 dup ZCCHC16/ALG13 (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 1/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X q28 del TMLHE/SPRY3 (3 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 2/1699 in cases; 0/824 in controls Kushima 2017 27240532 NimbleGen 720k Whole-Genome Tiling arrays + qRT-PCR 1699 824 Sporadic Chinese + Japanese X YY dup whole genes in Y chromosome (>10 genes) confirmed a significant association of X-chromosome aneuploidies with SZ and identified 11 de novo CNVs in cases 0/1699 in cases; 1/824 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 22 q11.21 del COMT/TRMT2A (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 64/21094 in cases; 1/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 16 p11.2 dup KIF22/MVP (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 70/21094 in cases; 7/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 2 p16.3 del NRXN1 (1 gene) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 35/21094 in cases; 3/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 15 q13.3 del KLF13/OTUD7A (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 28/21094 in cases; 2/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 1 q21.1 del/dup CHD1L/ACP6 (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 60/21094 in cases; 14/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 3 q29 del WDR53/LRRC33 (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 16/21094 in cases; 0/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 16 p11.2 distal del RABEP2/CD19 (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 11/21094 in cases; 0/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 7 q11.23 dup LIMK1/EIF4H (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 16/21094 in cases; 1/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american X q28 distal dup MTCP1/BRCC3 (7 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 18/21094 in cases; 2/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 22 q11.21 dup COMT/TRMT2A (>10 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 3/21094 in cases; 16/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 7 q11.21 del/dup ZNF92 (1 gene) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 131/21094 in cases; 180/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 13 q12.11 dup ZMYM5 (1 gene) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 15/21094 in cases; 38/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american X q28 dup HSFX1/MAGEA11 (2 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 12/21094 in cases; 36/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 15 q11.2 del TUBGCP5/CYFIP1 (4 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 98/21094 in cases; 50/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 9 p24.3 del/dup DMRT1 (1 gene) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 13/21094 in cases; 1/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 8 q22.2 del VPS13B (1 gene) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 7/21094 in cases; 1/20227 in controls Marshall 2017 27869829 multi-platform 21094 20227 Sporadic European + Asian + African american 7 p36.3 del/dup WDR60/VIPR2 (7 genes) CNV burden was enriched for genes associated with synaptic function and neurobehavioral phenotypes in mouse 20/21094 in cases; 6/20227 in controls Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian 7 q35 del CNTNAP2 (1 gene) CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian 3 p14.1 dup MAGI1 (1 gene) CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian 19 p13.3 dup KDM4B/PTPRS (22 genes) CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian 3 q24 dup ZIC1 (1 gene) CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian X p11.4 dup TSPAN7 (1 gene) CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian 7 q31.2 del MET/CAPZA2 (9 genes) CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Piluso 2017 29069978 Agilent SurePrint G3 8X60K 46 family trios of SZ - Familial Italian X q21.1 dup - CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to schizophrenia 1/46 in cases Yuan 2017 28096781 Axiom Exome Genotyping Arrays 476 1023 Sporadic Chinese 1 q21.1 del NBPF16/NBPF15 (>10 genes) - 1/476 in cases; 0/1023 in controls Yuan 2017 28096781 Axiom Exome Genotyping Arrays 476 1023 Sporadic Chinese 15 q11.2 del IPW/SNRPN (>10 genes) - 1/476 in cases; 1/1023 in controls Yuan 2017 28096781 Axiom Exome Genotyping Arrays 476 1023 Sporadic Chinese 7 q11.23 WBS dup EIF4H/CLIP2 (>10 genes) - 2/476 in cases; 0/1023 in controls Yuan 2017 28096781 Axiom Exome Genotyping Arrays 476 1023 Sporadic Chinese 16 p11.2 dup MLAS/IMAA (>10 genes) - 4/476 in cases; 1/1023 in controls Tang 2017 28645778 Whole genome sequence 8 twins discordant for schizophrenia and both parents - Familial Chinese 16 p13.1 del ABCC1/XYLT1 (10 genes) - both twins inherited from father Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 15 q11.2 del TUBGCP5/CYFIP1 (4 genes) - 97/21088 in cases; 50/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 16 p13.11 dup ABCC1/XYLT1 (>10 genes) - 57/21088 in cases; 46/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 1 q21.1 dup CHD1L/ACP6 (>10 genes) - 20/21088 in cases; 4/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 15 q13.3 del KLF13/OTUD7A (>10 genes) - 23/21088 in cases; 2/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 1 q21.1 del CHD1L/ACP6 (>10 genes) - 30/21088 in cases; 4/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 2 p16.3 del NRXN1 (1 gene) - 36/21088 in cases; 3/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 7 q11.23 dup LIMK1/EIF4H (>10 genes) - 10/21088 in cases; 0/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 16 p11.2 dup KIF22/MVP (>10 genes) - 53/21088 in cases; 4/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 15 q11.2 dup TUBGCP5/CYFIP1 (4 genes) - 11/21088 in cases; 0/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 22 q11 del COMT/TRMT2A (>10 genes) - 56/21088 in cases; 0/20222 in controls Bergen 2019 30392412 multi-platform previously published 21088 previously published 20222 Sporadic European + Asian + African american 3 q29 del WDR53/LRRC33 (>10 genes) - 14/21088 in cases; 0/20222 in controls Saxena 2019 30779116 multiplex ligation probe amplification 307 359 Sporadic Italian 15 q11.2 del TUBGCP5/CYFIP1 (4 genes) - 6/307 in cases; 3/359 controls Saxena 2019 30779116 multiplex ligation probe amplification 307 359 Sporadic Italian 15 q11.2 dup TUBGCP5/CYFIP1 (4 genes) - 1/307 in cases; 3/359 controls