copy-number variant

copy-number variant (plural copy-number variants)

1. (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.

• CNV

• 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.