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Tandem duplication of 326593bp at chr1:160367322-160693915 #4

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jzook opened this issue May 10, 2024 · 0 comments
Open

Tandem duplication of 326593bp at chr1:160367322-160693915 #4

jzook opened this issue May 10, 2024 · 0 comments
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DUP Duplication 50bp to 1Mbp Mosaic Variant in only some cells

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@jzook
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jzook commented May 10, 2024

Chr: chr1
Position: 160367322-160693915
ID: severus_DUP378
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: 159732069|160433302
SVTYPE: DUP
HP: 1
END: 160693915
SVLEN: 326593
DETAILED_TYPE: tandem_duplication
Screenshot 2024-05-09 at 10 35 04 PM

Probably in ~2/3 of cells based on VAF in each cell
image
@jzook jzook added DUP Duplication 50bp to 1Mbp Mosaic Variant in only some cells labels May 10, 2024
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