نتایج جستجو برای: copy number variation

تعداد نتایج: 1448919  

2016
Brittney N. Keel Amanda K. Lindholm-Perry Warren M. Snelling

Genomic structural variations are an important source of genetic diversity. Copy number variations (CNVs), gains and losses of large regions of genomic sequence between individuals of a species, have been associated with a wide variety of phenotypic traits. However, in cattle, as well as many other species, relatively little is understood about CNV, including frequency of CNVs in the genome, si...

Journal: :Genome research 2006
Jennifer L Freeman George H Perry Lars Feuk Richard Redon Steven A McCarroll David M Altshuler Hiroyuki Aburatani Keith W Jones Chris Tyler-Smith Matthew E Hurles Nigel P Carter Stephen W Scherer Charles Lee

DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. ...

Journal: :Cytogenetic and genome research 2008
H Auer

DNA copy number variation (CNV) was recently discovered as a significant part of human genetic variation. This variation affects genes as well as intergenic regions. Herein, current insight into the effects of CNV on gene expression is summarized. The consequences of intergenic CNVs are poorly understood. For CNV affecting genes, a dosage compensation mechanism seems to be applied on a subset o...

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