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How to copy number in the Debenture

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do you know that over two third of the entire Human Genome comprises of repetitive regions among this about 4 to 10 percent comprises of copy number variations which docHubly contributes to variation in the individuals of our population hello and welcome back to another interesting video of explore bio on genomic series I am Dr Abhishek and in this short video we will learn what a copy number variation is what are the causes of copy number variation how they can be identified and what are their consequences so without any delay lets begin copy number variation or cnv is one of the major causes of a structural variation in the genome in which the number of copies of a particular genome segment gets duplicated or deleted these copy number variations can technically range between thousand bases to 5 megabases but most cnvs are less than 10 KB long in this picture you can see individual 1 has 3 copies of genome segment highlighted in orange color in both the parental chromosomes due

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How do you calculate copy number variation?

The CNV is simply given by the ratio of the estimated concentration of the target gene to the estimated concentration of the reference gene. Both of these concentrations are estimated by applying the Poisson law as explained in the item Poisson Law Computation.

What is an example of a copy number variant?

One of the most well known examples of a short copy number variation is the trinucleotide repeat of the CAG base pairs in the huntingtin gene responsible for the neurological disorder Huntingtons disease.

What is copy number loss?

CNL denotes the decreased gene (or sequence fragment) copies in the genome while CNG denotes the gain of additional gene copies in the human genome.

What is a copy number in DNA?

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.

What causes copy number variations?

Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material.

What is a copy number alteration?

Copy number alterations (CNAs) are somatic changes to chromosome structure that result in gain or loss in copies of sections of DNA, and are prevalent in many types of cancer (2).

What is an example of a copy number variation?

Copy number variation, CNV. Changes in the number of copies of small sections of our genomes can have big consequences. One interesting example is a gene called amylase. This gene is important for digesting starchy foods like potatoes or grains.

Is Down syndrome a copy number variation?

Complex combination of Down syndrome phenotype could be produced by partially copy number variations (CNVs) on chromosome 21 as well.

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