Fig. 5

Implications of deletion prevalence in a pregnant population. a The “duplication span” and “deletion span” values were calculated by counting the percentage of bins in a 10 Mb window at which the depth (count) of mCNVs is ≥3. Dotted boxes demarcate regions with sufficient mCNV depth to contribute to the span percentage. In the duplication span schematic, the dotted boxes constitute 50% of bins in the 10 Mb window, and in the deletion span schematic, 30% of bins are in the dotted boxes; thus, the duplication and deletion spans 50 and 30%, respectively. b Examples of the span values and gene content for chromosomes 4 and 5. Gray regions indicate the common 4p16 and 5p15 microdeletions. c 2D histogram of the deletion and duplication spans (Pearson r = 0.73, p < 0.05) with their respective 1D histograms above and at right. d The dup:del ratios of common microdeletions (red triangles) are plotted relative to a histogram of dup:del ratios of 10 Mb moving windows across the autosomes. e Common microdeletions and most other pathogenic ICCG microdeletions (purple diamonds) are outliers in either their gene density or dup:del ratio compared to 10 Mb windows (2D histogram in background). Arrow indicates an observed pathogenic 13q34 maternal terminal microdeletion that is an outlier in both parameters, while other observed maternal deletions (yellow circles)—expected to be benign—had low values. Panels (d) and (e) plot variants with dup:del ratios outside of the shown x-axis bounds at the nearest boundary and variants with a deletion span of 0 as having a maximal dup:del ratio. c and e show 2D histograms with hexagonal bins, where dark colors are high density and light colors are low density