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)
- SNPs are variants at single nucleotide positions and are almost always biallelic.
- Roughly 1% of SNPs occur in coding regions.
- 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
- CNVs can be biallelic and simply duplicated or,deleted in some individuals.
- Approximately 50% of CNVs involve coding sequences.
- CNVs are responsible for 5 million and 24 million base pairs of sequence difference between any two individuals.
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