Copy number variation
Copy number variation (pronunciation: /ˈkɒpi ˈnʌmbər ˌveəriˈeɪʃən/; etymology: derived from the English words "copy", "number", and "variation") is a phenomenon in genetics where sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population.
Definition
Copy number variations (CNVs) are a form of structural variation in the genome, specifically, they are alterations of the DNA of a genome that results in the cell having an abnormal number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes.
Causes
The causes of copy number variation include non-allelic homologous recombination, non-homologous end joining, fork stalling and template switching, and microhomology-mediated break-induced replication.
Implications
Copy number variations can contribute to genetic diversity and phenotypic variation, and are thought to be associated with certain complex traits and diseases, including autism, schizophrenia, autoimmune disorders, and cancer.
Detection
Methods for the detection of copy number variations include comparative genomic hybridization, quantitative PCR, multiplex ligation-dependent probe amplification, and next-generation sequencing.
See also
External links
- Medical encyclopedia article on Copy number variation
- Wikipedia's article - Copy number variation
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