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Deletions together with SNVs on BAM files

Dear All, I frequently see such variant on genome browser when looking at variants. I was wondering what is the source of this? It seems as it would be a haplotype, but quality is frequently low by variants such as this. I thought on pseudogene effect, but could not prove so. Any idea? Thank you enter image description here

alignment sequencing genome browser
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written by baliczap • baliczap

Hi,

These kind of variants are usually called delins and there are some pathogenic known delins variants. In this article there are some suggestions of possible causes of such mutations:

It has been suggested that the hypermutability of CpG dinucleotides could be thecause of these complex mutations ... The rich CpG sequences are not the only hotspot regions with a high degree of mutability. Overrepresentation of some penta-, tetra-, and trinucleotide motifs in the vicinity of delins has been described...

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written by desouzareis.r desouzareis.r

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