What a difference copy number variation makes

DNA copy number variation (CNV) represents a considerable source of human genetic diversity. Recently,1 a global map of copy number variation in the human genome has been drawn up which reveals not only the ubiquity but also the complexity of this type of variation. Thus, two human genomes may diffe...

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Bibliographic Details
Published in:BioEssays 2007-04, Vol.29 (4), p.311-313
Main Author: Kehrer-Sawatzki, Hildegard
Format: Article
Language:English
Subjects:
Animals
Gene Dosage - genetics
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Genome, Human - genetics
Humans
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Summary:DNA copy number variation (CNV) represents a considerable source of human genetic diversity. Recently,1 a global map of copy number variation in the human genome has been drawn up which reveals not only the ubiquity but also the complexity of this type of variation. Thus, two human genomes may differ by more than 20 Mb and it is likely that the full extent of CNV still remains to be discovered. Nearly 3000 genes are associated with CNV. This high degree of variability with regard to gene copy number between two individuals challenges definitions of normality. Many CNVs are located in regions of complex genomic structure and this currently limits the extent to which these variants can be genotyped by using tagging SNPs. However, some CNVs are already amenable to genome‐wide association studies so that their influence on human phenotypic diversity and disease susceptibility may soon be determined. BioEssays 29:311–313, 2007. © 2007 Wiley Periodicals, Inc.
ISSN:0265-9247
1521-1878
DOI:10.1002/bies.20554