Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Breakpoints of SVs #532

Open
reshu23 opened this issue Nov 25, 2024 · 2 comments
Open

Breakpoints of SVs #532

reshu23 opened this issue Nov 25, 2024 · 2 comments

Comments

@reshu23
Copy link

reshu23 commented Nov 25, 2024

Dear Team,
I have question related to reported break points of SVs by Sniffles. Are breakpoints detected at single nucleotide resolution(exact breakpoints)?
Thank you.

@tuannguyen8390
Copy link

Yes, you can look at the flag STDEV_POS
##FILTER=<ID=STDEV_POS,Description="SV Breakpoint standard deviation filter">

Variant with STDEV_POS=0 variant would have "perfect" breakpoint. But some variability perhaps might be expected depending on sequencing technology.

@reshu23
Copy link
Author

reshu23 commented Nov 25, 2024

Thank you. I will check it.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants