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- (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.
- 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.