Table 7 CNV burden in known ASD genes in cases vs. PDx controls
TypeSizeaCase countsControl countsASD %CT %p value
All11014154.3076922.3400940.0700680
Deletions1101115.6410260.2881848.90E-05b
Duplications1103141.3698633.0303030.9480197
  • ASD, autism spectrum disorder; CNV, copy number variations; PDx, control cohort DNA samples.

  • a Number of genes causally implicated in ASD (Betancur 2011).

  • b Significant differences (p ≤ 0.01) are indicated; ASD and CT (controls) % are based on the total number of subjects with at least one rare exonic CNV of the respective type.