Despite the high degree of overlap that was apparent, disorders showed distinct profiles of type of CNV (Figure 2B). We categorized CNVs as category A if they showed highly stereotyped intervals likely based on non-allelic homologous recombination due to flanking segmental duplications, category B if the CNV involved single genes, or category C if the CNVs affected multiple genes and occurred in a given locus but with highly variable intervals (See Method and Figure S2, available online). There were significantly more category A CNVs in ID (n=17) than in either ASD (n=5, p=.004) and epilepsy (n=3, p<.001). Similar findings were noted for category C with ID (n=8) encompassing significantly more than ASD (n=2, p=.04) or epilepsy (n=0, p=.002). There were significantly more category B CNVs in schizophrenia (n=9) than in either ID (n=2, p=.03) and epilepsy (n=0, p<.001). In general, the patterns seemed to favor more category A and C in ID, and more category B (single gene CNVs) in autism and schizophrenia.
