What is the Origin of Single Nucleotide Variant?

The foundational concept of small-scale genetic variation has been integral to the field of molecular biology since the structure of DNA was first elucidated. The specific, modern term SNV, along with the older, more common term Single Nucleotide Polymorphism (SNP), emerged with the advent of large-scale, high-throughput genome sequencing projects. These technological advances allowed for the systematic identification and cataloging of these common genetic differences across diverse human populations.

Single Nucleotide Variant ∞ Area

Single Nucleotide Variant

Meaning

A Single Nucleotide Variant (SNV) is a specific type of genetic variation where a single nucleotide base pair—Adenine, Thymine, Cytosine, or Guanine—in the DNA sequence is definitively altered at a particular position within the genome. These minor variations are the most common and pervasive type of genetic difference observed among individuals, and they can occur in both the coding and non-coding regions of the DNA. SNVs are crucial molecular determinants of individual differences in core physiology, susceptibility to various diseases, and the differential response to hormonal therapies.