ClinvarCategoricalCnvCount¶

Draft

This data class is at a draft maturity level and may change significantly in future releases.

A ClinVar copy number variant with an absolute copy count. Uses a DefiningLocationConstraint with a CopyCountConstraint from Cat-VRS CategoricalCnv.

JSON Schema: ClinvarCategoricalCnvCount

Some ClinvarCategoricalCnvCount attributes are inherited from CategoricalCnv, ClinvarCategoricalVariantProperties.

Information Model¶

Field	Type	Limits	Description
`id`	`string`	0..1	The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
`type`	`string`	0..1	MUST be "CategoricalVariant"
`name`	`string`	0..1	A primary name for the entity.
`description`	`string`	0..1	A free-text description of the Entity.
`aliases`	`string`[] (unordered)	0..m	Alternative name(s) for the Entity.
`extensions`	`ExtensionClinvarHgvsList` \| `ExtensionClinvarGeneList` \| `ExtensionCategoricalVariationType` \| `ExtensionDefiningVrsVariationType` \| `ExtensionClinvarVariationType` \| `ExtensionClinvarSubclassType` \| `ExtensionClinvarCytogeneticLocation` \| `ExtensionVrsPreProcessingIssue` \| `ExtensionsVrsProcessingException`[] (unordered)	0..m	A list of extensions to the entity. Extensions are not expected to be natively understood, but may be used for pre-negotiated exchange of message attributes between systems.
`members`	`Variation` \| `iriReference`[] (unordered)	0..m	A non-exhaustive list of VRS Variations that satisfy the constraints of this categorical variant.
`constraints`	`Constraint`[] (unordered)	0..m
`mappings`	`ConceptMapping`[] (unordered)	0..m	A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.