t(2;15)(q23.1;q25.3)

Source: ClinVar variation 1177130: t(2;15)(q23.1;q25.3)

Recipes that this example satisfies: None

Attributes

• id: clinvar:1177130, where 1177130 is the Variation ID listed within the Identifiers section of ClinVar’s Variant Details.

• type: CategoricalVariant, as required by the specification.

• name: t(2;15)(q23.1;q25.3), the human-readable label listed within the Identifiers section of ClinVar’s Variant Details.

• description: A note that this described variant is an example of a categorical variant being modeled without constraints, which may be useful while awaiting specification support for the necessary constraint type.

• aliases: ClinVar does not provide any alternative representations of this variant, so this field is left empty.

• extensions: The cytogenetic location (2q23.1-23.2) and ClinVar variation type (Translocation) are obtained from the Location and Type and length sections of ClinVar’s Variant Details.

• mappings: ClinVar does not provide any mappings within the Links section of this variant’s Variant Details, so this field is left empty.

Constraints

This example does not apply any constraints. Implementers may choose to represent Categorical Variants in this way while waiting for the specification to support a means to model them.

Members

This example does not include members, as VRS does not yet support translocations.

Full example: JSON

{
  "id": "clinvar:1177130",
  "type": "CategoricalVariant",
  "name": "t(2;15)(q23.1;q25.3)",
  "description": "This described variant is an example of a categorical variant being modeled without constraints. This may be useful to model types of categorical variants as necessary constraints are still being developed.",
  "extensions": [
    {
      "name": "cytogenetic location",
      "value": "2q23.1-23.2"
    },
    {
      "name": "clinvar variation type",
      "value": "Translocation"
    }
  ]
}

Full example: YAML