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SequenceVariant

An allele that varies in its sequence from what is considered the reference allele at that locus.

classDiagram GenomicEntity <|-- SequenceVariant PhysicalEssence <|-- SequenceVariant OntologyClass <|-- SequenceVariant BiologicalEntity <|-- SequenceVariant SequenceVariant : category SequenceVariant : description SequenceVariant : has_attribute SequenceVariant : has_biological_sequence SequenceVariant : has_gene SequenceVariant : id SequenceVariant : in_taxon SequenceVariant : iri SequenceVariant : name SequenceVariant : provided_by SequenceVariant : source SequenceVariant : type SequenceVariant : xref

Parent Classes

Children

Slots

Name Description
category Name of the high level ontology class in which this entity is categorized. Corresponds to the label for the biolink entity type class. In a neo4j database this MAY correspond to the neo4j label tag. In an RDF database it should be a biolink model class URI. This field is multi-valued. It should include values for ancestors of the biolink class; for example, a protein such as Shh would have category values biolink:Protein, biolink:GeneProduct, biolink:MolecularEntity, etc. In an RDF database, nodes will typically have an rdf:type triples. This can be to the most specific biolink class, or potentially to a class more specific than something in biolink. For example, a sequence feature f may have a rdf:type assertion to a SO class such as TF_binding_site, which is more specific than anything in biolink. Here we would have categories {biolink:GenomicEntity, biolink:MolecularEntity, biolink:NamedThing}
description a human-readable description of an entity
has_attribute connects any entity to an attribute
has_biological_sequence The state of the sequence w.r.t a reference sequence
has_gene Each allele can be associated with any number of genes
id A unique identifier for an entity. Must be either a CURIE shorthand for a URI or a complete URI
in_taxon connects an entity to its taxonomic classification. Only certain kinds of entities can be taxonomically classified; see 'thing with taxon'
iri An IRI for an entity. This is determined by the id using expansion rules.
name A human-readable name for an attribute or entity.
provided_by The value in this node property represents the knowledge provider that created or assembled the node and all of its attributes. Used internally to represent how a particular node made its way into a knowledge provider or graph.
source None
type None
xref Alternate CURIEs for a thing

Mappings

Mapping Type Mapped Value
self ['https://w3id.org/biolink/biolink-model/:SequenceVariant']
native ['https://w3id.org/biolink/biolink-model/:SequenceVariant']
exact ['GENO:0000002', 'WIKIDATA:Q15304597', 'SIO:010277', 'VMC:Allele', 'SO:0001059']
broad ['SO:0001060']
close ['dcid:Allele']