English
Noun
copy-number variant (plural copy-number variants; abbreviated CNV)
- genetics a DNA sequence 1000 nucleotides (or synonymously base pairs) in length or longer that is present a variable number of times as copies in a genome relative to a reference genome
References
Lars Feuk, Andrew R. Carson and Stephen W. Scherer. "Structural variation in the human genome," Nat Genet Rev 2006; 7:85.
Freeman, JL, Perry GH, Feuk L, Redon R, McCarroll? SA, Altshuler DM, Aburtani H, Jones K, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. "Copy number variation: New insights into genome diversity" Genome Res 2006; 16: 949-61.
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