5-base Copy Number Variation

Currently, Illumina 5-base supports only PCR prep

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 targeted sequencing data. For more information, refer to the DRAGEN user guide for germline CNV calling.

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

HG002 5-base CNV summary (Wittyer event-level bins, Deletion+CopyNumberLoss, click to expand)

Subtype	Recall	Precision	F1-score
1kb-10kb	0.955	0.983	0.969
10kb-50kb	0.964	0.966	0.965
>50kb	1.000	1.000	1.000

CNV for 5-base