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Chunk #46 — 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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It is important to note, however, that considering only events restricted to 15q13.2-13.3 (i.e. removing 3 overlapping isodicentric chromosome 15 events) we do not find significance (0.53 combined; 0.88 for duplications). This suggests either that the result is an incidental finding due to the proximity to a true ASD risk locus, or, alternatively, that the smaller 15q13.2-13.3 CNVs might point to a minimum region of overlap mapping to one or more ASD-related genes.