All fourteen recurrent deletions were significantly overrepresented in cases compared with controls (Table 3), demonstrating each is a pathogenic CNV. The 22q11.2 deletion was not seen in controls, confirming the pathogenic nature of this known disease-causing CNV (p=9.15E-21). The 16p11.2 deletion was observed in 67 cases in the ISCA cohort, but only five 16p11.2 deletions were found among the control population, providing strong evidence for the pathogenic nature of this CNV (OR=8.64; p=6.34E-10).
