CNV

CNV

Copy number variation (CNV) is a genetic phenomenon characterized by large-scale structural changes in DNA that result in the repetition or deletion of certain parts of the genome, leading to variations in the number of copies of specific genes or regions of DNA between individuals. CNVs have been found to play a significant role in gene expression levels and disease phenotypes, and new CNV-detecting platforms have been developed to facilitate the identification of disease-associated structural genetic variations.From: Scientific and Technical Terms in Bioengineering and Biological Engineering [2018], Air pollution and molecular changes in age-related diseases [2022], Applied Molecular Biotechnology [2019]

Glossary of scientific and technical terms in bioengineering and biological engineering

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Published in Megh R. Goyal, Scientific and Technical Terms in Bioengineering and Biological Engineering, 2018

Megh R. Goyal

Copy Number Variation (CNV) refers to large-scale structural changes in DNA that vary from individual to individual. These include insertions, deletions, duplications and complex multi-site variants that range from kilobases to megabases in size.

Air pollution and molecular changes in age-related diseases

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Published in International Journal of Environmental Health Research, 2022

B. Hermanova, P. Riedlova, A. Dalecka, V. Jirik, V. Janout, R. J. Sram

Copy number variation (CNV) is a state where parts of the genome are repeated. This is a type of genomic structural variation, involving both deletion (loss of part of the genome) or duplication (the duplication of part of the genome) (Freeman 2006). The deletion and duplication of chromosomal segments are the main source of variation among individual people and are also a basic factor in human evolution and many diseases (mental, development, cancer). CNV occur faster than other types of mutation, owing to specific mechanisms. There are two theories concerning the contemporary molecular mechanisms that probably relate to these variations. CNV are produced by homologous recombination between repeated sequences or by non-homologous recombination mechanisms occurring in the whole genome (non-repeating CNV) (Freeman 2006; Montavon et al. 2012).

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Glossary of scientific and technical terms in bioengineering and biological engineering

Air pollution and molecular changes in age-related diseases