Manta <DUP:TANDEM> interpretation
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6 months ago
bharata1803 ▴ 580

Hi,

I have this variant:

chr3    129573007   MantaDUP:TANDEM:238504:0:1:0:0:0    A   <DUP:TANDEM>    .   PASS    END=129701068;SVTYPE=DUP;SVLEN=128061;CIPOS=0,4;CIEND=0,4;HOMLEN=4;HOMSEQ=GGGA;SOMATIC;SOMATICSCORE=212 PR:SR   83,0:76,0   162,60:135,66

Can someone explain, what does this mean? What is the meaning of position field, and END field? Since this is duplication, is the interval from 129573007 to 129701068 actually duplicated?

structural • 436 views
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