Copy number variation (CNV) refers to a form of genomic structural variation that results in abnormal gene copy numbers, including gene amplification, gain, loss and deletion.

Thanks to engrained lessons from cytogenetics, researchers largely regarded variations in gene copy a rarity, synonymous with defects. Increasingly, however, researchers have found that large-scale ...

Although no single sequencing approach can accurately identify all copy number variation types—and short reads don’t adequately flag copy number variations—better methods to analyze and ...

A collaborative study emanating from the Sanger Institute, for example, explored global variation in copy number in the human genome using both array-based CGH and SNP genotyping, describing it as ...

For example, chromosome 13, which has the highest of the three examined coefficients of variation, is the most buffered from the effects of copy-number variants (Figure 2).

Furthermore, no links have been found between any cancer and a type of genetic change called "copy-number variants," or CNVs.

Instead of performing DNA sequencing, which can identify changes in individual bases, they look for copy number variations, in which larger segments of DNA are either duplicated or deleted.

Gene Duplications Give Clues to Humanness: All told, the researchers found more than 4000 genes that showed lineage-specific changes in copy number, with the numbers steadily increasing over ...

Large copy-number variations associated with schizophrenia are prevalent in a high-risk Finnish region for schizophrenia with an isolated founder population.

Study results demonstrate that combining copy number variation (CNV) information with cfDNA fragment size information could serve as a new avenue for early detection of colorectal cancer, with ...

Over 250 associations between phenotype and copy number variation were identified. New ties were revealed between certain genes and various traits, like height. For example, some carriers of very rare ...