Scope and Usage
This value set can be used in conjunction with the ancillary-nucleotide-change-type, which can provide optional detail associated to the PrimaryNucleotideChangeType.
PrimaryNucleotideChangeType:
Annotations done using the primaryNucleotideChangeType attribute are restricted to one of the following terms provided. Any term used outside this list would be considered invalid for this attribute.
| Code | Display Name |
|---|---|
| SO:0000159 | deletion |
| SO:0000667 | insertion |
| SO:1000036 | inversion |
| SO:0000199 | translocation |
| SO:1000032 | indel |
| SO:0001019 | copy_number_variation |
| SO:1000002 | substitution |
| SO:000000 | no_sequence_alteration |
Examples:
primaryNucleotideChangeType: (cardinality of 1)
| Type | Display Name | Code |
|---|---|---|
primaryNucleotideChangeType |
substitution |
SO:1000002 |
| Type | Display Name | Code |
|---|---|---|
primaryNucleotideChangeType |
no_sequence_alteration |
SO:000000 |