Unlike single nucleotide polymorphisms (SNPs) that involve changes in single DNA bases, CNVs affect larger DNA segments and can vary in size from several hundred base pairs to millions of base pairs.
Some frequent CNV mutations include Down syndrome, Di George syndrome, Jacobsen syndome, all of which typically manifest in mental disability - intellectual disability in the case of down’s and schizophrenia in the case of Di George’s and Jacobsen’s.
Theres 2 types of copy number variants you can easily identify within your genome if you’ve taken a commercial DNA test.
Deletions, or loss of certain DNA segments, can be identified within your raw genome file by the letter “D”, and insertions by the letter “I”.
Not every commercial DNA test includes information on the other 2 types of CNVs, which are duplications and inversions.
🧬 What are CNVs - Copy Number Variants
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