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loading...| Preferred Name | sequence variant | |
| Synonyms |
allele |
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| Definitions |
A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration. |
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| ID |
https://w3id.org/biolink/vocab/SequenceVariant |
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| altLabel |
allele |
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| closeMatch |
http://semanticscience.org/resource/SIO_010277 http://purl.obolibrary.org/obo/SO_0001060 https://github.com/ga4gh/vr-spec/Allele |
|
| definition |
A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration. |
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| exactMatch | ||
| inScheme | ||
| label |
sequence variant |
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| note |
This class is for modeling the specific state at a locus. A single DBSNP rs ID could correspond to more than one sequence variants (e.g CIViC:1252 and CIViC:1253, two distinct BRCA2 alleles for rs28897743) |
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| prefixIRI |
biolink:SequenceVariant |
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| prefLabel |
sequence variant |
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| subClassOf |
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