The clonal mosaic anomalies detected in GENEVA subjects were classified as 15.6% duplications, 50.4% deletions and 34.0% aUPDs. All three classes of mosaic anomalies are large (Figure 4 and Supplementary Fig. 6). Median lengths are 34.1 Mb for duplications, 3.8 Mb for deletions and 39.8 Mb for aUPD. Mosaic aneuploidies include +8, +9, +12, +14, +15, +18, +19, −21, and +22, while whole-chromosome mosaic UPDs include chromosomes 2, 3, 13, 14, and 15. Plots of the breakpoints of all mosaic anomalies are provided in Supplementary Figure 7 and genomic coordinates (along with other information) are provided in Supplementary Table 3.
