RT Journal
A1 Freeman, Jennifer L.
A1 Perry, George H.
A1 Feuk, Lars
A1 Redon, Richard
A1 McCarroll, Steven A.
A1 Altshuler, David M.
A1 Aburatani, Hiroyuki
A1 Jones, Keith W.
A1 Tyler-Smith, Chris
A1 Hurles, Matthew E.
A1 Carter, Nigel P.
A1 Scherer, Stephen W.
A1 Lee, Charles
T1 Copy number variation: New insights in genome diversity
JF Genome Research 
JO Genome Research 
YR 2006 
FD August 01 
VO 16 
IS 8 
SP 949 
OP 961 
DO 10.1101/gr.3677206 
UL http://genome.cshlp.org/content/16/8/949.abstract 
AB 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. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases.