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single nucleotide variant
(SING-gul NOO-klee-oh-tide VAYR-ee-unt)
- A DNA sequence
variation that occurs when a single nucleotide (adenine,
thymine, cytosine, or guanine) in the genome sequence is
altered. Single nucleotide variants may be rare
or common in a population. Sometimes
single nucleotide variants are referred to as single
nucleotide polymorphisms if they are present in at least 1%
of the population. Also called SNV.