Genomic Feature and Variation Ontology

Last uploaded: October 14, 2016
Preferred Name

Sequence Variant
Synonyms
Definitions

Describing specific sequence alterations of a genomic feature. A variant is related to "Reference" class instances, which denote the sequence that serves as a basis for sequence alteration comparisons. Encodes for the "Variant_seq" attribute in GVF. Captures the "ALT" column and "ALT" information field in VCF.

ID

https://www.codamono.com/biointerchange/gfvo#SequenceVariant

comment

Describing specific sequence alterations of a genomic feature. A variant is related to "Reference" class instances, which denote the sequence that serves as a basis for sequence alteration comparisons. Encodes for the "Variant_seq" attribute in GVF. Captures the "ALT" column and "ALT" information field in VCF.

isDefinedBy

http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-41

http://samtools.github.io/hts-specs/VCFv4.2.pdf

http://sequenceontology.org/resources/gvf.html

http://samtools.github.io/hts-specs/VCFv4.1.pdf

label

Sequence Variant

prefixIRI

SequenceVariant

prefLabel

Sequence Variant

seeAlso

http://en.wikipedia.org/wiki/Mutation

subClassOf

https://www.codamono.com/biointerchange/gfvo#DNASequence

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