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Max duplicate size of 5k #6

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davmlaw opened this issue Jul 30, 2024 · 0 comments
Open

Max duplicate size of 5k #6

davmlaw opened this issue Jul 30, 2024 · 0 comments

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@davmlaw
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davmlaw commented Jul 30, 2024

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

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