<?xml version="1.0" encoding="UTF-8"?> <rdf:RDF xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" xmlns:ns0="http://www.ebi.ac.uk/efo/" xmlns:owl="http://www.w3.org/2002/07/owl#" xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:obo_purl="http://purl.obolibrary.org/obo/" xmlns:oboinowl_gen="http://www.geneontology.org/formats/oboInOwl#" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:metadata_def="http://data.bioontology.org/metadata/def/" xmlns:metadata="http://data.bioontology.org/metadata/"> <owl:Class rdf:about="http://www.ebi.ac.uk/efo/EFO_0030063"> <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/IAO_0000030"/> <rdfs:label>copy number assessment</rdfs:label> <rdfs:comment>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.</rdfs:comment> <obo_purl:IAO_0000115>Result of genomic copy number assessment of a genomic element or region.</obo_purl:IAO_0000115> <oboinowl_gen:hasExactSynonym>copy number variation analysis</oboinowl_gen:hasExactSynonym> <oboinowl_gen:hasExactSynonym>genomic copy number assessment</oboinowl_gen:hasExactSynonym> <dc:creator>paola</dc:creator> <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2022-01-14T11:04:56Z</dc:date> <metadata_def:prefLabel>copy number assessment</metadata_def:prefLabel> <metadata_def:mappingLoom>copynumberassessment</metadata_def:mappingLoom> <metadata_def:mappingSameURI rdf:resource="http://www.ebi.ac.uk/efo/EFO_0030063"/> <metadata:prefixIRI>efo:EFO_0030063</metadata:prefixIRI> </owl:Class> <rdf:Description rdf:about="http://www.ebi.ac.uk/efo/EFO_0030064"> <rdfs:subClassOf> <rdf:Description rdf:about="http://www.ebi.ac.uk/efo/EFO_0030063"> <metadata_def:mappingSameURI rdf:resource="http://www.ebi.ac.uk/efo/EFO_0030063"/> </rdf:Description> </rdfs:subClassOf> </rdf:Description> <rdf:Description rdf:about="http://www.ebi.ac.uk/efo/EFO_0030066"> <rdfs:subClassOf rdf:resource="http://www.ebi.ac.uk/efo/EFO_0030063"/> </rdf:Description> </rdf:RDF>