copy number variation
Also written as: CNV — Copy Number Variation
Genomic alterations involving the duplication or deletion of DNA segments in cancer cells.
Full Definition
Copy number variation (CNV) refers to genomic alterations where sections of DNA are present in different copy numbers compared to the reference genome, including deletions, duplications, and amplifications. In cancer, CNVs can affect oncogenes and tumor suppressor genes, contributing to cancer progression and treatment resistance. CNV analysis from sequencing data requires specialized algorithms and careful interpretation, as some variations may be germline polymorphisms rather than cancer-driving events.
Usage
Usage note: May be reported as focal or broad alterations depending on size and genomic context.
In Context
- "Copy number variation analysis revealed significant amplification of the HER2 gene region." — Genomics report
- "The bioinformatics pipeline detected multiple copy number variations affecting known cancer driver genes." — Laboratory documentation