Given that 16p13.11 contained both a de novo CNV and the largest patient/control difference across the genome, we undertook further investigation of the de novo status of other 16p13.11 patient CNVs in our sample. Parental DNA was available for 1 of the 5 16p13.11 deletions (TS only), which we confirmed as de novo using qPCR. We also re-examined trios removed during QC for evidence of large 16p13.11 events and found one additional deletion (OCD only) with a statistically significant in silico probability of being de novo, p=5.68×10−14 that we subsequently validated using qPCR (Figure S8, available online). This increased the total number of 16p13.11 deletions from 5 to 6, 3 of which were de novo (2 OCD only, 1 TS only; see Table S10, available online). The de novo status of 2 16p13.11 deletions could not be determined because parental DNA was not available; 1 deletion was inherited.
