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Enum: VariantTypeEnum

URI: alskb:VariantTypeEnum

Permissible Values

Value Meaning Description
SNV None Single nucleotide variant
indel None Insertion or deletion
repeat_expansion None Trinucleotide repeat expansion
CNV None Copy number variation
structural None Structural variant (inversion, translocation)

Slots

Name Description
variant_type

Identifier and Mapping Information

Schema Source

  • from schema: https://cair2015.github.io/als-kg

LinkML Source

name: VariantTypeEnum
from_schema: https://cair2015.github.io/als-kg
rank: 1000
permissible_values:
  SNV:
    text: SNV
    description: Single nucleotide variant
  indel:
    text: indel
    description: Insertion or deletion
  repeat_expansion:
    text: repeat_expansion
    description: Trinucleotide repeat expansion
  CNV:
    text: CNV
    description: Copy number variation
  structural:
    text: structural
    description: Structural variant (inversion, translocation)