Fig. 2
Case P7: derivative chromosome inherited from a balanced translocation in a parent. a, b Sequencing depth support for a duplication on 16q and b deletion on 2p. Slices in the image represent distribution of normalized sequencing depth across 100-kb genomic intervals. c, d Distribution of maternal allele frequency for all phased variants in copy number altered regions corresponding to c 16q gain and d 2p loss. Note that variant frequency distributions are colored by the parent of origin as determined by trio phasing. e Summary of split and discordant sequencing read evidence for recombinant chromosomes at copy-number variant (CNV) breakpoints.
