Hi, I am hoping for some advice on the GnomAD v4 SV entry: DEL_CHR10_FD5D2313.
This variant has a Pass on the filtering stage indicating it is a high quality call, and a quality score of 76. I have been unable to find out what this quality score means and note that some other SVs have much higher quality scores. Is there any information available to explain what this quality score means and how it can be used to inform on the quality of the variant call?
Looking at the Genotype Quality plot, almost all the variant carriers have genotype quality scores at the low end of the scale, whereas the majority of other individuals have scores at >100. Could this indicate that this call is an artefact due to quality issues? Is it possible to determine whether or not this is a genuine copy number variant in these individuals?
Thank you for assistance with this.