Table 2.
Number and frequency of high-risk CNV carriers along with number and fraction of diagnosed SNPDs among carriers.
| Total | ID | SCZ | EPI | BD | MDD | Any SNPDa | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n | % | n | % | n | % | n | % | n | % | n | % | n | % | |
| FINRISKb | 23,053 | 100% | 55 | 0.24% | 118 | 0.51% | 501 | 2.17% | 158 | 0.69% | 1416 | 6.14% | 843 | 3.66% |
| DECIPHER CNV | 64 | 0.28% | 1 | 1.56% | 1 | 1.56% | 1 | 1.56% | 1 | 1.56% | 7 | 10.94% | 3 | 4.69% |
| ID gene deletion | 43 | 0.19% | 1 | 2.33% | 1 | 2.33% | 3 | 6.98% | 1 | 2.33% | 6 | 13.95% | 5 | 11.63% |
| High pLI gene deletion | 264 | 1.15% | 0 | 0.00% | 1 | 0.38% | 5 | 1.89% | 1 | 0.38% | 15 | 5.68% | 8 | 3.03% |
| >1 Mb deletion | 129 | 0.56% | 2 | 1.55% | 2 | 1.55% | 3 | 2.33% | 1 | 0.78% | 14 | 10.85% | 7 | 5.43% |
| >1 Mb duplication | 202 | 0.88% | 2 | 0.99% | 2 | 0.99% | 5 | 2.48% | 1 | 0.50% | 17 | 8.42% | 8 | 3.96% |
| Any high-risk CNVc | 573 | 2.49% | 4 | 0.70% | 4 | 0.70% | 13 | 2.27% | 3 | 0.52% | 46 | 8.03% | 22 | 3.84% |
| NFBC1966b | 4895 | 100% | 28 | 0.57% | 62 | 1.27% | 105 | 2.15% | 40 | 0.82% | 276 | 5.64% | 251 | 5.13% |
| DECIPHER CNV | 37 | 0.76% | 2 | 5.41% | 2 | 5.41% | 0 | 0.00% | 0 | 0.00% | 5 | 13.51% | 5 | 13.51% |
| ID gene deletion | 17 | 0.35% | 0 | 0.00% | 1 | 5.88% | 1 | 5.88% | 1 | 5.88% | 3 | 17.65% | 3 | 17.65% |
| High pLI gene deletion | 78 | 1.55% | 2 | 2.56% | 3 | 3.85% | 4 | 5.13% | 1 | 1.28% | 11 | 14.10% | 9 | 11.54% |
| >1 Mb deletion | 38 | 0.78% | 2 | 5.26% | 2 | 5.26% | 0 | 0.00% | 1 | 2.63% | 6 | 15.79% | 5 | 13.16% |
| >1 Mb duplication | 53 | 1.08% | 1 | 1.89% | 0 | 0.00% | 1 | 1.89% | 0 | 0.00% | 4 | 7.55% | 3 | 5.66% |
| Any high-risk CNVc | 171 | 3.49% | 3 | 1.75% | 5 | 2.92% | 5 | 2.92% | 1 | 0.58% | 18 | 10.53% | 14 | 8.19% |
The first column shows the total number of participants in the cohort, along with the total number of carriers and their frequency. Consecutive columns indicate a number of carriers that have the relevant SNPD phenotype and the fraction of affected carriers. Not included are the diagnoses of childhood behavioral disorders and disorders of psychiatric development, due to the very low frequency of cases; they were however included in the “any SNPD” category. The percentage presented in the phenotype column is the fraction of carriers that have the disorder.
ID intellectual disability, SCZ schizophrenia, EPI epilepsy, BD bipolar disorder, MDD major depressive disorder.
aDepression was not included in this joint category.
bThese rows indicate the total number of participants in the cohort and the total number of cases with an SNPD diagnosis.
cThe number indicates individuals with any high-risk CNV. One individual might have more than one high-risk CNV, and one high-risk CNV can belong to several categories.