Copy number variation: New insights in genome diversity

    • 1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts 02115, USA;
    • 2 Harvard Medical School, Boston, Massachusetts 02115, USA;
    • 3 School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona 85287, USA;
    • 4 Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada;
    • 5 The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, United Kingdom;
    • 6 Program in Medical and Population Genetics, Broad Institute of Harvard University and Massachusetts Institute of Technology, Cambridge, Massachusetts 02141, USA;
    • 7 Genome Science Division, University of Tokyo, Tokyo, 153-8904 Japan;
    • 8 Molecular Genetics Division, Affymetrix, Inc., Santa Clara, California 95051, USA
Published June 29, 2006. Vol 16 Issue 8, pp. 949-961. https://doi.org/10.1101/gr.3677206
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cover of Genome Research Vol 36 Issue 5
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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.

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