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Copy Number Variant (CNV)

Definition
AI-generated

A copy number variant is a structural variant that changes the number of copies of a genomic segment, usually through deletion or duplication.

Topics
Core genetics
Related
Deletion Duplication Genotyping Array

Why it matters in GWAS

CNVs can influence dosage-sensitive genes and disease risk, but they are often not well represented by standard SNP-based analyses.

Example usage

"CNV burden was analyzed separately from the SNP GWAS because the events were called from intensity data."

Deletion Duplication Genotyping Array Structural Variant
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Sudmant PH, et al. (2015). An integrated map of structural variation in 2,504 human genomes. Nature.
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