Table 3.

Comparison of ISV predictions against ClinVar Classification.

CNV type	Clinvar classification	ISV—benign	ISV—pathogenic	ISV—uncertain significance
CNV loss	Benign	1062	6	221
CNV loss	Pathogenic	11	413	116
CNV gain	Benign	1162	2	97
CNV gain	Pathogenic	13	115	23