Copy Number Polymorphism

Preferred Label : Copy Number Polymorphism;

NCIt synonyms : CNP; CNV; CNA;

NCIt related terms : Copy Number Alteration; copy number variant; Copy Number Variation; copy_number_variant;

NCIt 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.;

Alternative definition : NCI-GLOSS: 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.;

Codes from synonyms : CDR0000600383; CDR0000600384;

Details

Origin ID

C40207;

UMLS CUI

C1511518;

Currated CISMeF NLP mapping
- DNA copy number polymorphisms [MeSH concept]
Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
UMLS correspondences (same concept)
- DNA copy number polymorphisms [MeSH concept]
Validated automatic mappings to NTBT
- DNA copy number variations [MeSH Descriptor]
concept_is_in_subset
- ALL Authorized Value Terminology [NCIt concept]
- ALL Molecular Analysis Table [NCIt concept]
- AML Authorized Value Terminology [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- CTDC Node Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Molecular Analysis Table [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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