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Chunk #21 — RESULTS — De Novo Analyses

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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
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The OCD parent-proband trios (total trios=348) were examined for the presence of large (>500kb), rare, de novo CNVs. We detected 5 high confidence, de novo CNVs at 4q24, 7p21.1-7p21.2, 16p13.11, 17q12, and 22q11.21, resulting in a de novo rate of 1.44% (Figure S8, available online). Three of these CNVs were in known pathogenic neurodevelopmental loci: 16p13.11, 17q12, 22q11.21 (Table S3, available online). All 5 events were validated in silico and by qPCR (Table S11, available online).