Abstract
Deletions and duplications of chromosomal DNA fragments, alongside inversions and translocations, are collectively termed copy number variants (CNVs). A significant contribution to human genome variability can be attributed to CNVs, which are estimated to account for 4.8% to 9.7% of the human genome.1 Copy number variants have three potential implications: no phenotypic effect, an adaptive trait, or underlying disease. Mechanisms implicated in CNV-associated disease include gene dosage, gene disruption, gene fusion, and long-range regulation effects.
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More From: The Journal of Allergy and Clinical Immunology: In Practice
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