Ontology description
| Genome Variation ontology (rdf:type owl:Ontology ) | |
|---|---|
| dcterms:license | http://creativecommons.org/publicdomain/zero/1.0/ |
| rdfs:comment | "GVO: Genome Variation Ontology for semantic representation of the genome variation" @en |
| rdfs:label | "Genome Variation ontology" @en |
| owl:imports | http://www.w3.org/2004/02/skos/core |
| owl:imports | https://www.dublincore.org/specifications/dublin-core/dcmi-terms/dublin_core_terms.ttl |
| owl:versionInfo | "2021-11-18" xsd:date |
Classes
| gvo:Bnd (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "BND" @en |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Breakend" @en |
| gvo:CNG (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "CNG" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001742 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0187 |
| rdfs:subClassOf | gvo:CNV |
| skos:definition | "Copy number gain" @en |
| gvo:CNL (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "CNL" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001743 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0187 |
| rdfs:subClassOf | gvo:CNV |
| skos:definition | "Copy number loss" @en |
| gvo:CNV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "CNV" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001019 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Copy number variation" @en |
| gvo:CS (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "CS" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_1000005 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Complex substitution" @en |
| gvo:Cpx (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "Cpx" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001784 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0196 |
| rdfs:seeAlso | http://varnomen.hgvs.org/recommendations/DNA/variant/complex/ |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Complex structual variation" @en |
| skos:definition | "Complex structural alteration" @en |
| gvo:Ctx (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "Ctx" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0000199 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0197 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Translocation" @en |
| gvo:DDup (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "dDUP" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Dispersed duplication" @en |
| gvo:DDupIdel (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "dDUP-iDEL" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Dispersed duplication with deletion at insertion site" @en |
| gvo:DelAlu (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delAlu" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002070 |
| rdfs:subClassOf | gvo:DelME |
| skos:definition | "Alu deletion" @en |
| gvo:DelHERV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delHERV" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002067 |
| rdfs:subClassOf | gvo:DelME |
| skos:definition | "HERV deletion" @en |
| gvo:DelInv (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delINV" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 5' flanking deletion" @en |
| gvo:DelInvDel (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delINVdel" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 5' and 3' flanking deletions" @en |
| gvo:DelInvDup (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delINVdup" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 5' flanking deletion and 3' flanking duplication" @en |
| gvo:DelLINE1 (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delLINE1" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002069 |
| rdfs:subClassOf | gvo:DelME |
| skos:definition | "LINE1 deletion" @en |
| gvo:DelME (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delME" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002066 |
| rdfs:subClassOf | gvo:Del |
| skos:definition | "Mobile element deletion" @en |
| gvo:DelSVA (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "delSVA" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002068 |
| rdfs:subClassOf | gvo:DelME |
| skos:definition | "SVA deletion" @en |
| gvo:Dup (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "Dup" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_1000035 |
| rdfs:seeAlso | http://varnomen.hgvs.org/recommendations/DNA/variant/duplication/ |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Duplication" @en |
| gvo:DupInv (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "dupINV" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 5' flanking duplication" @en |
| gvo:DupInvDel (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "dupINVdel" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 5' flanking duplication and 3' flanking deletion" @en |
| gvo:DupInvDup (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "dupINVdup" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 5' and 3' flanking duplications" @en |
| gvo:Indel (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "Indel" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_1000032 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0143 |
| rdfs:seeAlso | http://varnomen.hgvs.org/recommendations/DNA/variant/delins/ |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Sequence alteration which included an insertion and a deletion" @en |
| gvo:InsAlu (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "insAlu" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002063 |
| rdfs:subClassOf | gvo:InsME |
| skos:definition | "Alu insertion" @en |
| gvo:InsHERV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "insHERV" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002187 |
| rdfs:subClassOf | gvo:InsME |
| skos:definition | "HERV insertion" @en |
| gvo:InsIDel (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "INS-iDEL" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Insertion with deletion at insertion site" @en |
| gvo:InsLINE1 (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "insLINE1" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002064 |
| rdfs:subClassOf | gvo:InsME |
| skos:definition | "LINE1 insertion" @en |
| gvo:InsME (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "insME" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001837 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0192 |
| rdfs:subClassOf | gvo:Ins |
| skos:definition | "Mobile element insertion" @en |
| gvo:InsNS (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "insNS" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001838 |
| rdfs:subClassOf | gvo:Ins |
| skos:definition | "Novel sequence insertion" @en |
| gvo:InsSVA (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "insSVA" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002065 |
| rdfs:subClassOf | gvo:InsME |
| skos:definition | "SVA insertion" @en |
| gvo:InsUnknown (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "InsUnknown" @en |
| rdfs:subClassOf | gvo:Ins |
| skos:definition | "Insertion of unknown sequence" @en |
| gvo:InterBnd (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "InterBnd" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001873 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0202 |
| rdfs:subClassOf | gvo:Bnd |
| skos:definition | "Interchromosomal breakpoint" @en |
| gvo:InterCtx (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "InterCtx" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002060 |
| rdfs:subClassOf | gvo:Ctx |
| skos:definition | "Interchromosomal translocation" @en |
| gvo:IntraBnd (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "IntraBnd" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001874 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0198 |
| rdfs:subClassOf | gvo:Bnd |
| skos:definition | "Intrachromosomal breakpoint" @en |
| gvo:IntraCtx (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "IntraCtx" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002061 |
| rdfs:subClassOf | gvo:Ctx |
| skos:definition | "Intrachromosomal translocation" @en |
| gvo:InvDel (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "INVdel" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 3' flanking deletion" @en |
| gvo:InvDup (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "INVdup" @en |
| rdfs:subClassOf | gvo:Cpx |
| skos:definition | "Complex inversion with 3' flanking duplication" @en |
| gvo:MCNV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "MCNV" @en |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Multiallelic copy number variation" @en |
| gvo:MNV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "MNV" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002007 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0136 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Multiple nucleotide variant" @en |
| gvo:NSA (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "NSA" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002073 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0135 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "No sequence alteration" @en |
| gvo:SA (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "SA" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001059 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0135 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Sequence alteration" @en |
| gvo:SNV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "SNV" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0001483 |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/VariO_0136 |
| rdfs:seeAlso | http://varnomen.hgvs.org/recommendations/DNA/variant/substitution/ |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Single nucleotide variant" @en |
| gvo:STRV (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "STRV" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_0002096 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Short tandem repeat variation" @en |
| gvo:TDup (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "TDup" @en |
| rdfs:seeAlso | http://purl.obolibrary.org/obo/SO_1000173 |
| rdfs:subClassOf | gvo:Variation |
| skos:definition | "Tandem duplication" @en |
| gvo:Variation (rdf:type owl:Class ) | |
|---|---|
| rdfs:label | "Variation" @en |
Properties
Object properties
Datatype properties
| gvo:alt (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Alternative allele" @en |
| gvo:alt_vcf (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Alternative allele for VCF" @en |
| gvo:chrom (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Chromosome" @en |
| gvo:filter (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Filter" @en |
| gvo:info (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Info" @en |
| gvo:lft (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Left most position on the reference path" @en |
| gvo:pos (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Position" @en |
| gvo:pos_vcf (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Position for VCF" @en |
| gvo:qual (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Qual" @en |
| gvo:ref (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Reference allele" @en |
| gvo:ref_vcf (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Reference allele for VCF" @en |
| gvo:rgt (rdf:type owl:DatatypeProperty ) | |
|---|---|
| rdfs:label | "Right most position on the reference path" @en |