copy number variation
Alterations in the number of copies of specific DNA segments, including deletions and amplifications that can drive cancer progression.
Full Definition
Copy number variation (CNV) refers to structural genomic alterations where DNA segments are present in abnormal numbers of copies compared to the normal diploid state. In cancer genomics, CNVs can involve deletions of tumor suppressor genes or amplifications of oncogenes, both of which contribute to malignant transformation. These alterations can range from small segments affecting single genes to large chromosomal regions containing multiple genes. Detection and analysis of CNVs are essential components of comprehensive cancer genomic profiling and can inform treatment decisions.
Usage
Usage note: Abbreviate as CNV after first use; distinguish from single nucleotide variations.
In Context
- "The genomic analysis revealed significant copy number variation in the ERBB2 gene region." — Molecular pathology report
- "Copy number variations were detected in 68% of the tumor samples analyzed." — Research publication