question about translocation of SV caller output
1
0
Entering edit mode
5.4 years ago
9521ljh ▴ 50

if the SV caller give that:

<tra> chr:3 pos: 333223 chr:5 pos: 444332

i understand that breakpoint was in that postion.

however, Translocation need two pairs of breakpoints. why there's no other breakpoints?

why only one of breakspoints is represented?

sequencing genome • 1.2k views
ADD COMMENT
1
Entering edit mode

But I see 2 positions in your example?

ADD REPLY
0
Entering edit mode
2.4 years ago
Getting there ▴ 120

Short read data won't span both ends of the translocation if it is very large, so the other breakpoint may/may not be reported elsewhere. Others may sometimes be reported as insertions

ADD COMMENT

Login before adding your answer.

Traffic: 2051 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6