title: Copy number variation: new insights in genome diversity.
abstract: 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.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Freeman
authors.forename: George H
authors.initials: GH
authors.lastname: Perry
authors.forename: Lars
authors.initials: L
authors.lastname: Feuk
authors.forename: Richard
authors.initials: R
authors.lastname: Redon
authors.forename: Steven A
authors.initials: SA
authors.lastname: McCarroll
authors.forename: David M
authors.initials: DM
authors.lastname: Altshuler
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Aburatani
authors.forename: Keith W
authors.initials: KW
authors.lastname: Jones
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Carter
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Charles
authors.initials: C
authors.lastname: Lee
mesh_terms: D000818:Animals; D005075:Biological Evolution; D002874:Chromosome Mapping; D018628:Gene Dosage; D015870:Gene Expression; D015894:Genome, Human; D006801:Humans; D010641:Phenotype