Entering edit mode
2.5 years ago
arya.sagittarius
▴
10
I just wanted to confirm that the ALT in the vcf file does not contain any Structural variants CNV, DUP. I just checked (https://gnomad-public-us-east-1.s3.amazonaws.com/release/3.1.2/vcf/genomes/gnomad.genomes.v3.1.2.hgdp_tgp.chr21.vcf.bgz) for Chr21 header for ##ALT=<CNV .(https://samtools.github.io/hts-specs/VCFv4.3.pdf) It does not have them . So does that mean it must not be there for all other chromosomes? If not, how do we confirm it?
