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Difference between 1 and 2 in INV, INVTX and ITX #10

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ahwanpandey opened this issue May 1, 2019 · 0 comments
Open

Difference between 1 and 2 in INV, INVTX and ITX #10

ahwanpandey opened this issue May 1, 2019 · 0 comments

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@ahwanpandey
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ahwanpandey commented May 1, 2019

Hello,

I was wondering what the difference is between the following svtypes:

INV1 and INV2
INVTX1 and INVTX2
ITX1 and ITX2

Also, which of the classification values should I use from the VCF? There are classifications in the ALT column, the SVTYPE value, and also a tag.

For one of my samples, I get these classifications from the VCF:

ALT column
      3 <CIV>
    411 <DEL>
      1 <DUP>
    214 <INV>
    148 <TAN>
    124 <TRA>
	
SVTYPE value
      3 SVTYPE=CIV
    411 SVTYPE=DEL
      1 SVTYPE=DUP
     39 SVTYPE=INV1
     25 SVTYPE=INV2
     67 SVTYPE=INVTX1
     83 SVTYPE=INVTX2
     66 SVTYPE=ITX1
     58 SVTYPE=ITX2
    148 SVTYPE=TAN
	
the tag
    410 DEL
    148 DUP
      1 INS
     64 INV
    274 ITX
      3 CIV
      1 DUP

Thanks for your feedback!

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