Comments (1)
Allele IDs 24914 and 24911 in pseudoautosomal region should be mapped to both chrX and chrY, but here they are mapped only to chrX. It's possible that this happens to all variants in pseudoautosomal region.
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Related Issues (20)
- Sometimes "symbol" disagrees with primary hgvs gene annotation HOT 1
- Missing variants HOT 4
- RScript crash HOT 1
- Feature request: Including strand info and genomic start and end coordinates HOT 1
- Wrong gene mapping HOT 2
- Add "last_evaluated" field to VCF
- Improper labelling of conflicting variants as pathogenic HOT 3
- Job parse failure on system execution. ENV issues? HOT 5
- Another translation for gold stars
- Add LICENSE HOT 2
- Need to Update pathogenic & conflict boolean regex. HOT 1
- ClinSig changes for some halpotypes in join_data.R - become wrong! HOT 2
- Clinical Significance Order Lost in Allele Grouping HOT 8
- Convert the pipeline to hail for .tsv processing steps?
- Augmented tables in output HOT 2
- missing clinvar_alleles_with_exac_v1.*.tsv.gz HOT 1
- Mismatch between clinical_significance_ordered and submitters_ordered HOT 2
- Multiple isoforms not in index
- missing hgvs_c when indel is realigned and shifted.
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from clinvar.