CNVs are not well characterized nor have these effects been fine mapped. Here, we leverage a collection of data from 15,767 children with various developmental and intellectual disabilities and compare them to a CNV map we generated from 8,329 adult controls. We present the first detailed genome-wide morbidity map of developmental delay and congenital birth defects. Striking differences in the CNV landscape are revealed including potentially pathogenic genes, refinement of known disease-causing mutations, and the discovery of potentially novel genes, including the development of methods to opportunistically discover smaller disruptive CNVs from clinical datasets.
