Copy Number Bulletin For Free

Copy number variations can be generally categorized into two main groups: short repeats and long repeats. However, there are no clear boundaries between the two groups and the classification depends on the nature of the loci of interest.

Copy number variations (CNVs) are genomic alterations that result in an abnormal number of copies of one or more genes. Structural genomic rearrangements such as duplications, deletions, translocations, and inversions can cause CNVs.

Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals' genomes. The individual variants may be short or include thousands of bases.

Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals' genomes.

Copy number variation (CNV) is a general term used to describe a molecular phenomenon in which sequences of the genome are repeated, and the number of repeats varies between individuals of the same species.

One of the most well-known examples of a disease-causing CNV is Huntington disease, which is caused by a repeating sequence of three base pairs (known as a trinucleotide repeat) at the end of the coding region of the HTT gene.

Compared with SNPs, CNVs cover wider chromosomal regions and may potentially be responsible for changes in gene structure, modifications in gene regulation, changes in gene dosage, and exposing recessive alleles, resulting in large phenotypic effects.

The most common deletion syndrome and one of the most common CNV-associated CHD syndromes is chromosome 22q11 microdeletion syndrome.

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