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It seems that duplicates are calculating their length to be twice as long as they should be (presumably ref == alt)
The ClinGen Allele Registry paper says:
The maximal nucleotide (transcript or genomic) allele size is 10,000 bp,
But:
NC_000017.11:g.43078305_43083385dup (length 5080) fails
while
NC_000017.11:g.43078305_43083300dup (length 4995) works
Meanwhile if you replace the "dup" with a "del" it works:
https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NC_000017.11%3Ag.43078305_43083385del
Presumably you could also insert a delisn between 5-10k but the moment the insertion is the same as the reference the size is halved
The text was updated successfully, but these errors were encountered:
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It seems that duplicates are calculating their length to be twice as long as they should be (presumably ref == alt)
The ClinGen Allele Registry paper says:
But:
NC_000017.11:g.43078305_43083385dup (length 5080) fails
while
NC_000017.11:g.43078305_43083300dup (length 4995) works
Meanwhile if you replace the "dup" with a "del" it works:
https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NC_000017.11%3Ag.43078305_43083385del
Presumably you could also insert a delisn between 5-10k but the moment the insertion is the same as the reference the size is halved
The text was updated successfully, but these errors were encountered: