Syntax | Example | Description |
---|---|---|
HG( numeric version) | HG19 | Complete human reference genome |
 |  | by UCSC. '19' is version number |
Chr number | 1..22, X, Y | Chromosome numbers |
Numeric | 21898363 | 1-based position |
Nucleotides | A, C, G, T, N | N for unclear nucleotide |
/ | G/A | Substitution: alleles are 'G' and 'A' |
ins | insA | Insertion: 'A' is inserted |
del | delT | Deletion: 'T' is deleted |