Figure 1. Overviews of discovery approach and variant set.

(a) Overview of methods used for SV detection, genotyping and phasing within the GoNL project. (b) Structural variation consensus set, consisting of large duplications (outer ring), deletions larger than 100 bp (light red), chromosomes, insertions (triangles), mid-sized deletions (21–100 bp), small deletions (less than 20 bp) (dark red) and complex indels (purple). Heatmaps display the insertions of Alu, L1 and SVA elements. Inversions are indicated by black arcs in the centre of the plot, and interchromosomal break points (colored based on the source chromosome).