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However, the corresponding VCF file contains the variant with ALT 'NT':
$ zgrep -P "\t15163\t" clinvar_20240107.vcf.gz
11 5247969 15163 AG NT . . ALLELEID=30202;CLNDISDB=.;CLNDN=HEMOGLOBIN_EDMONTON;CLNHGVS=NC_000011.9:g.5247969_5247970delinsYT;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=other;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=HBVAR:331|LOVD_3:HBB_004062|OMIM:141900.0073;GENEINFO=HBB:3043|LOC106099062:106099062|LOC107133510:107133510;MC=SO:0001583|missense_variant;ORIGIN=1
This occurs also for multiple other variants in the VCF files. In fact, I have not observed any IUPAC code other than 'N' in the VCF files. Or is this intentional to follow the VCF specification?
The text was updated successfully, but these errors were encountered:
The variant 15163 has ALT 'YT', which is also correctly encoded in the XML file (note the last output line shown):
However, the corresponding VCF file contains the variant with ALT 'NT':
This occurs also for multiple other variants in the VCF files. In fact, I have not observed any IUPAC code other than 'N' in the VCF files. Or is this intentional to follow the VCF specification?
The text was updated successfully, but these errors were encountered: