CNV, also known as Copy Number Variant, refers to a type of structural variation that occurs within an individual's genome. It represents a difference in the number of copies of a particular DNA segment present in an individual's genome compared to the reference genome. CNVs can range in size from a few hundred base pairs to several megabases and can encompass genes, regulatory elements, or intergenic regions.
CNVs can be further categorized into two main types: gains or losses. A gain occurs when an individual has more copies of a DNA segment compared to the reference genome, while a loss refers to a decrease in the number of copies. These variations can arise as a result of genomic rearrangements, such as duplications, deletions, insertions, or inversions, and can occur spontaneously or be inherited from parents.
CNVs play a crucial role in genetic diversity and can have significant implications in understanding human phenotypic traits and disease susceptibility. They have been associated with various disorders, including neurodevelopmental disorders, such as autism and schizophrenia, as well as multiple cancers and genetic syndromes. Studying CNVs has become increasingly important in clinical genetics and personalized medicine as they can be informative for diagnosis, prognosis, and treatment selection.
In research and clinical settings, technologies like microarrays and next-generation sequencing have been employed to detect and characterize CNVs. These advanced techniques allow scientists to investigate the structural variations in the genome more comprehensively, aiding in gaining a deeper understanding of their impact on human health and disease.
