represent large CNVs near telomeres (Supplementary Figure 4). While we observed enrichments at one or both ends of all chromosomes, 12 chromosome ends showed particularly strong (p < 0.001) enrichment. Of the 80-CNV loci, 15 are novel or are supported by isolated case reports (Table 2). Additional phenotypic details for CNV carriers, including ethnicity and inheritance status, at each of these 15 CNV-loci is available in Supplementary Table 8, in some cases with comparison to similar CNVs observed in case reports from the DECIPHER database19. We note that one of these 15 (duplications at 10p15.3) appears to be enriched among cases as a consequence of allelic stratification between African and European populations and was eliminated from further consideration (see Methods and Supplementary Note).
