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why SVSIZE=number+ #139

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jingydz opened this issue Oct 24, 2023 · 2 comments
Open

why SVSIZE=number+ #139

jingydz opened this issue Oct 24, 2023 · 2 comments

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@jingydz
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jingydz commented Oct 24, 2023

Hi, why some records are "+"
for example:
chr1 1391725 chr1:1391725:FG N INS:SVSIZE=368+:AGGREGATED 162 PASS ABHet=0.5;ABHom=1;AC=1;AF=0.0001139;AN=8776;END=1391725;LEFT_SVINSSEQ=AAAAGTTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAA;MaxAAS=9;MaxAASR=0.5;MaxAltPP=9;NHet=1;NHomAlt=0;NHomRef=4387;NUM_MERGED_SVS=1;PASS_AC=1;PASS_AN=8774;PASS_ratio=0.9998;QD=16.2;RELATED_SV_ID=209;RIGHT_SVINSSEQ=AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;RefLen=1;SVMODEL=AGGREGATED;SVTYPE=INS;SV_ID=208;SeqDepth=158115;VarType=FG GT:FT:AD:MD:DP:RA:PP:GQ:PL 0/0:PASS:54,0:1:55:55,1:0:99:0,150,255

@jingydz
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jingydz commented Oct 24, 2023

The length of "left + right" sequence is the 368, why there is a plus flag in the end?
Can I ignore the plus flag?

@hannespetur
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Hey. SVSIZE=number+ is used if the full size of the insertion is not known (only the sizes of the breakpoint sequences).

Best,
Hannes

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