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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