Structural variation


Ontology type: npg:Subject  | skos:Concept     


Concept Info

NAME

Structural variation

DESCRIPTION

Structural variation refers to large scale structural differences in the genomic DNA that are inherited and polymorphic in a species. They are a result of chromosomal rearrangement – deletion, duplication, novel sequence insertion or inversion. If these polymorphisms are cytogenetically visible they are termed heteromorphisms.

Broader Concepts

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curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/ontologies/subjects/structural-variation'

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This table displays all metadata directly associated to this object as RDF triples.

47 TRIPLES      9 PREDICATES      18 URIs      12 LITERALS

Subject Predicate Object
1 sg:ontologies/subjects/structural-variation sgo:license sg:explorer/license/
2 sgo:sdDataset onto_subjects
3 rdf:type npg:Subject
4 skos:Concept
5 rdfs:label Structural variation
6 skos:altLabel Genome Structural Variant
7 Genome Structural Variants
8 Genome Structural Variation
9 Genome Structural Variations
10 Genomic Structural Variant
11 Genomic Structural Variants
12 Genomic Structural Variation
13 Genomic Structural Variations
14 skos:broader sg:ontologies/subjects/genetic-variation
15 skos:definition Structural variation refers to large scale structural differences in the genomic DNA that are inherited and polymorphic in a species. They are a result of chromosomal rearrangement – deletion, duplication, novel sequence insertion or inversion. If these polymorphisms are cytogenetically visible they are termed heteromorphisms.
16 skos:inScheme sg:ontologies/subjects/
17 skos:prefLabel Structural variation
18 sg:ontologies/subjects/ dcterms:description The Nature Subjects Taxonomy is a polyhierarchical categorization of scholarly subject areas which are used for the indexing of content by Springer Nature.
19 dcterms:title Nature Subjects Taxonomy
20 sgo:sdDataset onto_subjects
21 rdf:type skos:ConceptScheme
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31 sg:ontologies/subjects/genetic-variation sgo:sdDataset onto_subjects
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34 rdfs:label Genetic variation
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36 skos:broader sg:ontologies/subjects/genome
37 sg:ontologies/subjects/population-genetics
38 skos:definition Genetic variation describes the genotypic and phenotypic differences between individuals in a population, and between populations. This variation arises through genetic mutation and is important as it provides the diversity within and between populations required for natural selection.
39 skos:inScheme sg:ontologies/subjects/
40 skos:narrower sg:ontologies/subjects/rare-variants
41 sg:ontologies/subjects/structural-variation
42 skos:prefLabel Genetic variation
43 skos:Concept sgo:sdDataset for_codes
44 rdf:type rdfs:Class
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46 rdfs:subClassOf rdfs:Resource
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