copy number assessment
http://www.ebi.ac.uk/efo/EFO_0030063
Result of genomic copy number assessment of a genomic element or region. [ http://orcid.org/0000-0002-9903-4248 ]
Term info
Assessment of the copy number of a genomic feature or region, referenced to the expected allele count in a given sample. Examples of an expected count would be: a) autosomal chromosome in human germline: 2; b) X-chromosome in human male: 1; c) triploid cancer cell line: 3, i.e. a region with 2 alleles in a triploid cell line would correspond to a low-level copy number loss.
paola
2022-01-14T11:04:56Z
Result of genomic copy number assessment of a genomic element or region.
copy number variation analysis, genomic copy number assessment