Table 1.
Dataset demographics
| Loci | Chr (hg19) start-stop | nGenes (Gene) | Type | Subjects | Age (SD) [range] | Sex (M/ F) | ASD | SZ |
|---|---|---|---|---|---|---|---|
| 1q21.1 | chr1 | 7 | Del | 32 | 40 (17) [9–73] | 14 / 18 | 0 | 0 |
| 146.53–147.39 | CHDIL | Dup | 27 | 44 (15) [8–66] | 11 / 16 | 3 | 0 | |
| 15q11.2 | chr15 | 4 | Del | 110 | 55 (7) [40–69] | 50 / 60 | 0 | 0 |
| 22.81–23.09 | CYFIP1 | Dup | 144 | 54 (7) [40–69] | 67 / 77 | 0 | 0 | |
| 16p11.2 | chr16 | 27 | Del | 82 | 19 (15) [7–63] | 48 / 34 | 10 | 0 |
| 29.65–30.20 | KCTD13 | Dup | 69 | 32 (15) [8–63] | 39 / 30 | 7 | 1 | |
| 22q11.2 | chr22 | 49 | Del | 66 | 19 (13) [6–66] | 32 / 34 | 8 | 2 |
| 19.04–21.47 | AIFM3 | Dup | 22 | 26 (19) [8–66] | 12 / 10 | 2 | 0 | |
| Controls | 290 | 26 (14) [6–64] | 162 / 128 | 1 | 0 | |||
CNV loci chromosome coordinates are provided with the number of genes encompassed in each CNV and a well-known gene for each locus to help recognize the CNV. ASD and SCZ diagnoses for clinically ascertained CNV carriers were obtained from respective data acquisition sites. SCZ diagnosis in the UK Biobank corresponded to the ICD10 code, including schizophrenia, schizotypal, and delusional disorders (F20-F29). ASD diagnosis in the UK Biobank corresponded to the ICD10 code that included diagnoses of childhood autism (F84.0), atypical autism (F84.1), Asperger’s syndrome (F84.5), other pervasive developmental disorders (F84.8), and pervasive developmental disorder, unspecified (F84.9).
Del deletion, Dup duplication, ASD: autism spectrum disorder, SZ schizophrenia, chr chromosome, Age mean age, SD standard deviation, nGenes number of genes.