Copy number variant
Copy number variant (pronunciation: /ˈkɒpi ˈnʌmbər ˈveəriənt/; etymology: English, 2000s) 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 variants (CNVs) are a form of structural variation in the genome. They are defined as segments of DNA, typically larger than 1 kilobase (kb), that are copied (duplicated) or deleted compared to a reference genome. The number of copies of these segments can vary between individuals, hence the term "copy number variant".
Types of CNVs
There are two main types of CNVs: deletions and duplications. Deletions are when a segment of DNA is missing compared to the reference genome. Duplications are when a segment of DNA is present in extra copies compared to the reference genome.
Impact on Health
CNVs can have a significant impact on health. They can cause genetic disorders, such as Down syndrome, Prader-Willi syndrome, and Charcot-Marie-Tooth disease. They can also increase the risk of complex diseases, such as autism, schizophrenia, and autoimmune diseases.
Detection
CNVs can be detected using various genetic testing methods, including microarray analysis, next-generation sequencing, and quantitative PCR.
See Also
External links
- Medical encyclopedia article on Copy number variant
- Wikipedia's article - Copy number variant
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