Glossary Term
Single Nucleotide Variant
PCR TermsEN
Definition
A variation of a single nucleotide at a specific location of the genome due to base substitution, which is found at any frequency in the population.
Extended Notes
Source: National Cancer Institute, NCI Thesaurus 26.09d, C164674. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.
Also Known As
Single Nucleotide VariantSNV
References
- NCI Thesaurus 26.09d — Single Nucleotide Variant (C164674)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C164674. NCI definition, reproduced without modification under CC BY 4.0.
- Prenatal Sonographic Features of Heterozygous DLL1 Single-Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series. — Prenat Diagn, 2026-10-03 (PMID 42828856; literature)
- Genetics of type 2 diabetes: Beyond single nucleotide variant studies. — Mol Metab, 2026-09-26 (PMID 42800701; literature)
- A CRISPR/Cas14a-based platform for sensitive and specific single-nucleotide variant detection via short single-strand DNA amplification and split target design. — Biosens Bioelectron, 2026-09-24 (PMID 42804994; literature)
- Clinical utility of a dedicated vanishing twin analytical workflow in single-nucleotide variant-based non-invasive prenatal testing: a case report of resolving prolonged aneuploidy discordance. — Clin Chem Lab Med, 2026-09-23 (PMID 42770712; literature)
- OddCAPS: a simple, low-cost, universal technique for detecting single nucleotide variants. — G3 (Bethesda), 2026-10-27 (PMID 42936888; literature)