-
Notifications
You must be signed in to change notification settings - Fork 14
Description
Dear @readmanchiu,
I am using Straglr 1.5.5 and noticed that often two alleles are seemingly incorrectly merged into a single allele.
For example, if I interpret correctly, the CACNA1A variant below is called as having a homozygous length of 7.3, with a range from 5.3 to 11.3.
chr19 13207858 . C <CNV:TR> . PASS END=13207897;LOCUS=CACNA1A;RUS_REF=CTG;SVLEN=39;RN=1;RUS=CTG;RUC=7.3;CIRUC=-2.0,4.0 GT:DP:AS 1:22:22
However, if I look at the separate reads I clearly see two groups, one of 11.3 RU and one of 7.3 RU, with a single read in between, but outside the 10% range of both. What could be the reason that these clusters are merged and are there settings to play with to provide more stringent separation of clusters?
TSV CACNA1A
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 71fdfa13-c06f-4eda-a7a5-4d9707b079b0 CTG 11.3 34 20481 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 6958c6c1-6014-4be1-bbaf-6ce61ea6e86a CTG 11.3 34 5140 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) baf2e9a1-7354-4497-87ce-3533fc381046 CTG 11.3 34 2562 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) e1faec99-2507-417a-aa0d-fa6bca51b62e CTG 11.3 34 4257 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) c4339769-1856-4482-a354-2c37ebadbf6b CTG 11.3 34 5534 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) a82ca3e6-8b72-4f19-9ea0-bd3d19ee904c CTG 11.3 34 880 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 74727287-afff-4698-a185-612886ae7b23 CTG 8.3 25 3479 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 4325c736-7d79-48a5-b962-0e43945424b2 CTG 7.3 22 9432 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 4394eb25-5395-43f1-bc29-0d070707933d CTG 7.3 22 2995 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 425c9ba1-14ae-4216-878b-10b900b9959d CTG 7.3 22 702 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) bf00a150-8b53-479d-950a-fb06f26ba9b1 CTG 7.3 22 6598 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 0832d9c4-84e1-43fa-8bdf-15307b51dbef CTG 7.3 22 3646 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 599b542e-37b3-47a5-8558-67bbac3a90f8 CTG 7.3 22 4659 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 161f06d4-c4d6-442c-a48d-1be4ae82f6b8 CTG 7.3 22 4350 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 4f6eba27-3b1c-4ea8-8405-50af13be4fe1 CTG 7.3 22 3445 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) ed94882f-851d-44a1-80f2-eb960a24259f CTG 7.3 22 2753 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) 1c0b6ab6-22a9-4564-936f-34e44633c713 CTG 7.3 22 13320 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) e0fd235f-45be-4ff3-981c-ec82b13efef6 CTG 7.3 22 6217 - 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) f8948606-380d-4129-9780-727790534477 CTG 7.3 22 2200 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) e60b0f68-c92b-471c-b291-0add2e6ee466 CTG 7.3 22 2049 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) e4c99589-353f-407b-83a3-ef7d9fc699e5 CTG 7.3 22 1329 + 7.3 full
chr19 13207858 13207897 CTG chr19:13207858-13207897 22 7.3(22) eeefc8d5-10a4-4791-a9bb-5863eecfca5d CTG 5.3 16 894 + 7.3 full
Thank you.
Regards,
Lennart