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[Copy number variations in the human genome: their mutational mechanisms and roles in diseases].

Yi chuan = Hereditas - 1 Aug 2011

Du Ren-Qian, Jin Li, Zhang Feng

Abstract excerpt

Copy number variation (CNV) is the main type of structure variation (SV) caused by genomic rearrangement, which mainly includes deletion and duplication of sub-microscopic but large (>1 kb) genomic segments. CNV has been recognized as one of the main genetic factors underlying human diseases. The mutation rate (per locus) of CNV is much higher than that of single nucleotide polymorphism (SNP). The genome-wide...

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Disease
DNA Copy Number Variations
Genome, Human
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21831802
DOI: 10.3724/sp.j.1005.2011.00857

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