Of the two dbVar whole-gene DUPs, the COL4A2 339,611 bp CG, with breakpoints disrupting COL4A1 and NAXD, observed in a single African patient is defined as a PP-SV (Supplementary Fig. 9), as COL4A2 indicating oncogenic behaviour in gastric and breast cancers (Supplementary Table 7). Here, COL4A2 is linked to breast carcinoma.