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structural variation

Tuesday 21 November 2006

Types

- microscopic variants
- submicroscopic variants

  • copy-number variants (copy-number polymorphisms)
    • deletions
    • duplications
    • large-scale copy-number variants

See also

- SNPs
- genotypic variation
- phenotypic variation
- human diversity
- disease susceptibility

References

- Laskowski RA, Thornton JM. Understanding the molecular machinery of genetics through 3D structures. Nat Rev Genet. 2007 Dec 27; PMID: 18160966

- Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006 Feb;7(2):85-97. PMID: 16418744