Using this approach, the probability of finding 2 rare de novo CNVs at the same position in probands is 0.53. However, the observation of 4 recurrent de novo duplications at 7q11.23 (p= 7 × 10−6) and 11 recurrent de novo CNVs at 16p11.2 (p= 6 × 10−23) are both highly significant. In addition, we found that 16p11.2 deletions (N=7; p=2 × 10−14) and duplications (N=4; p=7 × 10−6) are strongly associated with ASD when considered independently (Figure S3).
