TruPath Copy Number Variation

Generated on 2026-06-10

Copy Number Variation

The DRAGEN Copy Number Variant (CNV) Pipeline can call CNV events using next-generation sequencing (NGS) data. This pipeline supports multiple applications in a single interface via the DRAGEN Host Software, including processing of whole-genome sequencing (WGS) data and whole-exome sequencing (WES) data. For more information, refer to the DRAGEN user guide for germline CNV calling.

DRAGEN: DRAGEN 4.5.4 | Truthset: HG002 NIST CNV v0.6 | Reference: GRCh38

TruPath CNV summary (click to expand)

Subtype	Recall	Precision	F1-score
1kb-10kb	0.953	0.988	0.970
10kb-50kb	0.929	0.968	0.948
>50kb	1.000	1.000	1.000

TruPath CNV accuracy