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. 2013 Feb 8;32(5):617–628. doi: 10.1038/emboj.2013.19

Table 1. Definition of genomic alterations.

Genomic alterations Definition   Description
SNP Single-nucelotide polymorphism Germiline Inherited genetic variation in the DNA sequence that occurs when a single nucleotide is altered
CNV Copy number variant Germline Inherited alteration of DNA that results in an abnormal number of copies of one or more segments of DNA (1 kilobase or larger)
SNV Single-nucleotide variant Somatic Acquired genetic variation in the DNA sequence that occurs when a single nucleotide is altered (i.e., point mutation)
CNA Copy number aberration Somatic Acquired alteration of DNA that results in an abnormal number of copies of one or more segments of DNA (1 kilobase or larger)