General pathology · 11 Jun 2021

Differences between the types of human DNA variations

General Pathology Topics

The two most common forms of human DNA variation in the human genome 1. Single nucleotide polymorphisms (SNPs) and 2. Copy number variations (CNVs).

Let’s looks at a few differences between the two human DNA variations. Very important topic for examinations.

Single nucleotide polymorphisms (SNVs)

  1. SNPs are variants at single nucleotide positions and are almost always biallelic.
  2. Roughly 1% of SNPs occur in coding regions.
  3. SNPs may be useful markers if they happen to be coinherited with a disease-associated polymorphism. In other words, the SNP and the causative genetic factor are in linkage disequilibrium.

Copy number variations

  1. CNVs can be biallelic and simply duplicated or,deleted in some individuals.
  2. Approximately 50% of CNVs involve coding sequences.
  3. CNVs are responsible for 5 million and 24 million base pairs of sequence difference between any two individuals.

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