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Genetics & Biotechnology vocabulary · Mutations and Genetic Variation

Copy number variation

Meaning in genetics & biotechnology, with examples

nounAdvanced term

In genetics & biotechnology, copy number variation means: A difference between people in the number of copies of a section of DNA, often thousands of base pairs or longer, caused by deletions or duplications.

In Turkish: kopya sayısı varyasyonu, kopya sayısı değişimi

How it is used

Abbreviated CNV. Used in clinical genetics, cytogenetics and genomics. CNVs are detected by chromosomal microarray, MLPA or sequencing data. Some are harmless, while others cause developmental disorders. Reports describe a CNV as a 'gain' (duplication) or a 'loss' (deletion).

Example sentences

  1. The microarray found a copy number variation that explains the child's developmental delay.

  2. Copy number variation in this region is common in healthy people and is classified as benign.

Common collocations

  • copy number variation (CNV)
  • CNV analysis
  • copy number gain
  • copy number loss
  • detect a CNV
  • deletionA type of mutation in which part of the DNA sequence is lost, from a single base to a large section of a chromosome.
  • variantA difference in a DNA sequence compared with a reference sequence. It is the neutral word used in clinical genetics, whether the change is harmful or harmless.
  • whole-genome sequencingSequencing nearly all of an organism's DNA, both the genes and the regions between them, in a single test.
  • pathogenicCausing disease. In clinical genetics, it describes a variant for which there is strong evidence that it causes a particular condition.

More terms: Mutations and Genetic Variation

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