Skip to content

Issues: genome-in-a-bottle/HG008-curations

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.

Sign up for GitHub

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

8 Open 0 Closed
8 Open 0 Closed
Author
Filter by author
Loading
Label
Filter by label
Loading
Use alt + click/return to exclude labels
or ⇧ + click/return for logical OR
Projects
Filter by project
Loading
Milestones
Filter by milestone
Loading
Assignee
Filter by who’s assigned
Sort
Sort by
Newest Oldest Most commented Least commented Recently updated Least recently updated Best match
Most reactions
👍 👎 😄 🎉 😕 ❤️ 🚀 👀

Issues list

Is this board now a record of your work? Do you have any publicly available mutation results? Thanks!
#9 opened Dec 4, 2024 by dudududu12138
[chr1:1-23272628][CNLOH][DUP of first 23Mbp of remaining copy of chr1p] CNA Copy Number Aberrations >1Mbp CNLOH Copy neutral loss of heterozygosity
#8 opened Jun 10, 2024 by jzook
@jzook
Somatic VNTR expansion around chr1:224013772 Tandem repeat Expansion/contraction of tandem repeat
#6 opened May 11, 2024 by jzook
95636bp mosaic tandem duplication at chr1:225835501-225931137 DUP Duplication 50bp to 1Mbp Mosaic Variant in only some cells
#5 opened May 10, 2024 by jzook
Tandem duplication of 326593bp at chr1:160367322-160693915 DUP Duplication 50bp to 1Mbp Mosaic Variant in only some cells
#4 opened May 10, 2024 by jzook
172bp mosaic DEL at chr1:151220118-151220291 DEL Deletion 50bp to 1Mbp
#3 opened May 10, 2024 by jzook
1
Translocation between chr1:23272628 and chr5:52747359 that causes duplication of first part of chr1 and deletion of chr5q SV Structural variant
#2 opened May 8, 2024 by jzook
2
CNLOH from ~start of chr1 to chr1:23272628 CNA Copy Number Aberrations >1Mbp CNLOH Copy neutral loss of heterozygosity
#1 opened May 8, 2024 by jzook
ProTip! Exclude everything labeled bug with -label:bug.