Fig. 4.

Distribution of different deletion categories. a Deletion categories in ID patients showed enrichment for deletions (>100 kb) in general, and specifically in deletions covering syndrome regions (as defined by the DECIPHER database), deletions that are located in an ID-associated gene region (see above) or CNVs deleting a gene intolerant of protein truncating mutations (pLI > 0.95). b Size distribution of Deletions by size bins, showing enrichment at all sizes > 500 kb . c Size distribution of Duplications by size bins > 500 kb, showing an enrichment for sizes > 1 Mb. Source data are provided as a Source Data file