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genome-in-a-bottle / HG008-curations

Curations of variants in HG008 tumor/normal pair
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95636bp mosaic tandem duplication at chr1:225835501-225931137 #5

Open jzook opened 5 months ago

jzook commented 5 months ago

Chr: chr1 Position: 225835501-225931137 ID: severus_DUP510 Reference: N* Alternate: Qual: 60 Type: SYMBOLIC Is Filtered Out: No

Alleles: Alternate Alleles: Allele Frequency: -1.0

Variant Attributes PRECISE: true STRANDS: -+ MAPQ: 60.0 PHASESETID: 225747243 SVTYPE: DUP HP: 2 END: 225931137 SVLEN: 95636 DETAILED_TYPE: tandem_duplication

Screenshot 2024-05-09 at 10 44 35 PM

Maybe in 20-30% of cells based on scWGS, though pretty noisy? image