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
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)