Table 1.
CNV | n | Prevalence (%) in the sample | Prevalence (%) among carriers |
---|---|---|---|
1q21.1del | 4 | 0.04 | 8.16 |
1q21.1dup | 6 | 0.07 | 12.25 |
NRXN1del | 2 | 0.02 | 4.08 |
3q29del | – | – | – |
7q11.23dupa | – | – | – |
15q11.2del | 24 | 0.26 | 48.98 |
15q11-q13dupb | – | – | – |
15q13.3del | – | – | – |
16p13.11dup | 9 | 0.10 | 18.37 |
16p12.1del | 2 | 0.02 | 4.08 |
16p11.2dup | 2 | 0.02 | 4.08 |
22q11.2del | – | – | – |
SZ-CNV carriers | 49 | 0.54 | 100 |
CNV non-carriers | 9063 | 99.46 | – |
Total | 9112 | 100 | – |
del deletion, dup duplication, SZ-CNV SZ-associated CNVs
aWilliams-Beuren syndrome
bPrader-Willi/Angelman syndrome