0.013, permutation test) and at cytogenically defined ‘fragile’ sites (P = 0.0017; permutation test). Although the proportion of gene content in regions exhibiting excessive SV clustering was significantly reduced when compared to a null distribution (P < 0.000001, permutation test), 1,881 of 3,163 such regions (59%) intersected one or more genes (Supplementary Table 11). This includes a region comprised of 47 SVs (ranking 2nd out of the 30 genomic regions with >4 s.d.) encompassing the pregnancy-specific glycoprotein gene family (Fig. 3a), a set of genes thought to be critically important for maintenance of pregnancy37. Other SV clusters associated with genes (for example, IMMP2L, CHL1 and GRID2) have been implicated as potential risk factors for disease, including neurodevelopmental disorders38.
