{"code":"C40207","name":"Copy Number Polymorphism","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"CNV","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Copy Number Altered","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Copy Number Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"copy number variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"CTDC"},{"name":"copy_number_variant","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CTDC"},{"name":"Copy Number Polymorphism","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"Copy Number Variation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"CNV","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000600384"},{"name":"copy number variant","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000600383"},{"name":"CNA","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"CNP","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"CNV","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Copy Number Alteration","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Copy Number Polymorphism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Copy Number Variation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Copy Number Polymorphism","type":"Display_Name","typeCode":"P107"},{"name":"Copy Number Polymorphism","type":"Preferred_Name","typeCode":"P108"},{"name":"Copy Number Alteration","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"PCDC","subSource":"GCT"},{"name":"Copy Number Alteration","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"PCDC","subSource":"EWS"},{"name":"Copy Number Alteration","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"PCDC","subSource":"AML"},{"name":"Copy Number Alteration","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"PCDC","subSource":"ALL"}],"definitions":[{"definition":"Refers to the genetic trait involving the number of copies of a particular gene present in the genome of an individual. Genetic variants, including insertions, deletions, and duplications of segments of DNA, are also collectively referred to as copy number variants. Copy number variants account for a significant proportion of the genetic variation between individuals.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"},{"definition":"Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CTDC"},{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P322","type":"Contributing_Source","value":"PCDC"},{"code":"P366","type":"Legacy Concept Name","value":"Copy_Number_Polymorphism"},{"code":"P375","type":"Maps_To","value":"Copy Number Variation"},{"code":"P106","type":"Semantic_Type","value":"Nucleotide Sequence"},{"code":"P207","type":"UMLS_CUI","value":"C1511518"}]}