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Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1] Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2]
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Gene dosage is the number of copies of a particular gene present in a genome. [1] Gene dosage is related to the amount of gene product (proteins or functional RNAs) the cell is able to express. Since a gene acts as a template, the number of templates in the cell contributes to the amount of gene product able to be produced.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. [ 1 ] [ 2 ] [ 3 ] It documents submicroscopic chromosome abnormalities ( microdeletions and duplications ) and pathogenic sequence variants (single nucleotide variants - SNVs, Insertions, Deletions, InDels), from over 25000 patients and maps ...
Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such analysis is the detection of chromosomal copy number variation that may cause or may increase risks of various critical disorders.
1. a spontaneous deviation (a 'de novo' situation): two chromosomes come together of which one has a copy number variation as a result of the meiosis process. 2. a parent is unknowingly carrier of a chromosome with a copy number variation and passes it through at conception to the child, with different consequences for the child.
Minisatellites have been associated with chromosome fragile sites and are proximal to a number of recurrent translocation breakpoints. Some human minisatellites (~1%) have been demonstrated to be hypermutable , with an average mutation rate in the germline higher than 0.5% up to over 20%, making them the most unstable region in the human genome ...
Somatic aneuploidy such as SNVs (single-nucleotide variations) and CNVs (copy number variations) have been particularly observed and linked to brain disfunctions when arising in prenatal brain development; anyway those somatic aneuploidy have been observed in rates of 1,3-40%, potentially increasing with age and for this reason they have been ...