Closed Peter-J-Freeman closed 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.
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
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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