Dosage sensitivity is a major determinant of human copy number variant pathogenicity.

When we considered individual pathogenic CNVs that were not overlapped by benign CNVs (that is, exclusively pathogenic regions), a mean of 37.3% of the genes were developmental genes compared with 24.2% of benign CNV genes (medians 28.4% and 0%, respectively), a highly significant difference ( P <1.0 × 10 −16 , Mann–Whitney U -test).

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