Chunk #48 — 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

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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Finally, we used the observed number and distribution of de novo CNVs in the combined proband data set to estimate the likely number of CNV regions contributing to ASD. From the total of 219 confirmed de novo events, we derived an estimate of 234 distinct genomic regions contributing to large ASD-related de novo structural variations (methods).