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How is copy number variation calculated?

To determine copy number, a relative quantitation analysis is performed between the unknown sample and a calibrator sample (one in which the copy number of the target gene is known). The sample is combined with both assays, master mix, and then run in quadruplicate in the real-time PCR instrument.

What does copy number variation mean?

A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next. Following the completion of the Human Genome Project, it became apparent that the genome experiences gains and losses of genetic material.

What Causes copy number variation?

Copy number variants appear to be higher in brain cells than in other cell types. A likely source of copy-number variation is incorrect repair of DNA damage. Genomic duplication and replication of the gene appear to be a rare cause of Parkinson's disease, although more common than point mutations.

What does copy number mean?

The gene copy number (also “copy number variants” or CNS) is the number of copies of a particular gene in the genotype of an individual. For example, genes that were thought to always occur in two copies per genome have now been found to sometimes be present in one, three, or more than three copies.

Is copy number variation a mutation?

These differences were named copy number variants, and they describe a segment of DNA that is 1 kilobase or larger and present at a variable copy number in comparison with a reference genome (Feud et al., 2006). Copy number variants are mutations and can include deletions, insertions, and duplications.

How do you calculate copy number variation?

Copy number variation can be detected with various types of tests such as fluorescent in situ hybridization, comparative genomic hybridization and with high-resolution array-based tests based on array comparative genomic hybridization (or ACTH), SNP array technologies and high resolution microarrays that include copy

How is gene copy number determined?

To measure DNA copy number, the amplicon should be located either within an exon or intron with sequences unique to that gene. A control gene with two copies should also be included. A master mix containing all the components is prepared and distributed in 96 or 384-well plate.

How do you determine a genes copy number?

To measure DNA copy number, the amplicon should be located either within an exon or intron with sequences unique to that gene. A control gene with two copies should also be included.

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