Fig. 5
Analysis of the overlap of SVs with gene models. A Distributions of the proportions of deletions and insertions overlapping various genic features as generated by a randomization test (5000 iterations). Observed proportions for each SV type and genic feature are indicated by a vertical dotted line. One-sided p-values are < 2 × 10−4 for all comparisons except for deletions overlapping genes, for which the p-value is 4 × 10−4. B Distribution of the allele frequencies of deletions and insertions depending on the genic features they overlap. Note the logarithmic scale on the y-axis. cds: SVs overlapping coding sequences; gene: SVs overlapping non-coding genic sequences; upstream5kb: SVs overlapping regions 5 kb upstream of genes, but not any genic sequences; intergenic: SVs that do not overlap any of the other features