When we further considered affected subjects of all ancestries (n = 2,446) and included chromosome abnormalities (>7.5 Mb), select large rare de novo events, and select experimentally validated smaller CNVs (<30 kb), we identified pathogenic CNVs in ∼3.3% of individuals with unexplained ASD (84 pathogenic events in 82/2,446 subjects; Figures 2A and S1A–S1C; Tables S7A and S7B). This most likely represents an underestimate of the true etiologic yield, given that many of the subjects were assessed with clinical diagnostic methods and excluded if positive; similarly, those individuals with known congenital malformations or dysmorphic features were not enrolled. Interestingly, 83% (64/77 [5 without information]) of carriers of pathogenic CNVs were nonsyndromic (i.e., ASD without reported accompanying physical or neurological abnormalities), and 57% (44/77 [5 without information]) had no ID (Figure 2B). The fraction of subjects with ID among carriers of pathogenic CNVs (42%) was not significantly different from the fraction of ID among all affected subjects (46%).