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chr17:g.7578554_7578555delinsCC not validating #483

Closed Peter-J-Freeman closed 1 year ago

Peter-J-Freeman commented 1 year ago

Describe the bug When this variant is included in a batch analysis, its impair any analysis and we have no reply (whether it is 5 variants or 1000 variants) chr17:g.7578554_7578555delinsCC When it is submitted as a single variant, we got an error, however, chr17:g.7578554_7578555delinsTT at the same coordinate validates fine.

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leicray commented 1 year ago

Could it be that the variant is actually an inversion (inv) rather than a delins? That might explain why delinsTT works, but not delinsCC.

For a quick check, see if delinsAA works. I think that it might.

The posted issue needs to be edited to remove the sections that are not relevant.

Peter-J-Freeman commented 1 year ago

It turns out it is a substitution

chr17:g.7578554_7578555delinsTT maps to NM_000546.6:c.376-1_376delGTinsAA

chr17:g.7578554_7578555delinsCC would map to NM_000546.6:c.376-1_376delGTinsGG which is actually NC_000017.10:g.7578554A>C

chr17:g.7578554_7578555delinsTT NM_000546.6:c.376-1_376delGTinsAA