Table 3

Universal SIMP nomenclature

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


Poo et al. BMC Genomics 2011 12(Suppl 3):S9   doi:10.1186/1471-2164-12-S3-S9

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