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Table 3 Universal SIMP nomenclature

From: UASIS: Universal Automatic SNP Identification System

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