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gvar

Schema for describing genomic variants as organised in a VCF file. This is not a representation of a VCF in RDF. This is a representation of genomic variants as Linked Data.

URI: https://ican.fr/

Name: gvar

Classes

Class Description
AlternateAllele Represents the alternate allele (geno:0000002).
Container None
ReferenceAllele Represents the reference allele (geno:0000036).
SequenceAlteration A representation of a sequence alteration (so:0001059).
VariantIdentifier A unique identifier for a sequence alteration.
VariationSite Represents the location of a sequence alteration.
VariationSiteBegin Represents the beginning of the location of a sequence alteration.
VariationSiteEnd Represents the end of the location of a sequence alteration.
VariationSiteReference Represents the reference sequence (contig, sequence, chromosome).

Slots

Slot Description
begins_at The beginning of the location of the sequence alteration
ends_at The end of the location of the sequence alteration
has_alternate_allele Links the sequence alteration to its alternate allele
has_identifier A unique identifier for the sequence alteration
has_location Links the sequence alteration to its location
has_reference The reference sequence (contig, sequence, chromosome)
has_reference_allele Links the sequence alteration to its reference allele
has_zygosity The zygosity of the sequence alteration
hgvsid HGVSid
label A human-readable label for the reference sequence
other Other identifiers
position The position of the beginning of the location of the sequence alteration
rsid dbsnp rsid
sameAs The value of the reference sequence in another database (ncbi sequence i
value The value of the reference allele
variantcatalog

Enumerations

Enumeration Description
ZygosityType Enumeration of zygosity types

Types

Type Description
Boolean A binary (true or false) value
Curie a compact URI
Date a date (year, month and day) in an idealized calendar
DateOrDatetime Either a date or a datetime
Datetime The combination of a date and time
Decimal A real number with arbitrary precision that conforms to the xsd:decimal speci...
Double A real number that conforms to the xsd:double specification
Float A real number that conforms to the xsd:float specification
Integer An integer
Jsonpath A string encoding a JSON Path
Jsonpointer A string encoding a JSON Pointer
Ncname Prefix part of CURIE
Nodeidentifier A URI, CURIE or BNODE that represents a node in a model
Objectidentifier A URI or CURIE that represents an object in the model
Sparqlpath A string encoding a SPARQL Property Path
String A character string
Time A time object represents a (local) time of day, independent of any particular...
Uri a complete URI
Uriorcurie a URI or a CURIE

Subsets

Subset Description