CNV

2006, Freeman et al., "Copy number variation: New insights into genome diversity" Genome Res 2006; 16: 949-61. "DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation."