Chunk #44 — Results — Expanded analysis of rare de novo CNVs across multiple ASD samples — An analysis of de novo CNVs in 3,816 probands from genome-wide studies of idiopathic ASD supports association of 6 genomic intervals
These datasets catalogued 228 confirmed, rare de novo CNVs from a total of 3,816 individuals (Table S1). We found 6 regions that exceeded the threshold for significance (methods). Given prior evidence, and our own data, that reciprocal deletions and duplications at certain loci, both contribute to the ASD phenotype we evaluated significance for combined events at an interval, as well as calculating probabilities for deletions and duplications separately (Table 4, Figure S3).
