Chunk #14 — RESULTS — CNV Characterization

Source

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Embedded

yes

Text

In 9.3% of cases, an observed genomic imbalance was classified as a VOUS, since there was insufficient evidence to conclude the CNV was either pathogenic or benign. There were ultimately 1,468 CNVs classified as VOUS, with a mean size of 765 kb (median of 569 kb) and a mean of ~10 genes per CNV (median of 5 genes). Duplications were more common than deletions, accounting for 68.8% of the imbalances.