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Unexpected SV with a zero coordinate

Open gudeqing opened this issue 4 months ago • 1 comments

Hi, I am using the latest SvABA(1.1.3) my pipeline, and the tool AnnotSv reported an invalid record from the result of SvABA in all samples:

chrM	0	275359916:1	N	]chrM:16641]N	99	PASS	DISC_MAPQ=50;EVDNC=DSCRD;IMPRECISE;MAPQ=50;MATEID=275359916:2;MATENM=-1;NM=-1;NUMPARTS=0;SCTG=chrM:0(-)-chrM:16641(+)__91_1_16571D;SPAN=16641;SVTYPE=BND	GT:AD:DP:GQ:PL:SR:DR:LR:LO	1/1:89:71:24.9:273.9,24.9,0:0:89:-274:274
chrM	16641	275359916:2	N	N[chrM:0[	99	PASS	DISC_MAPQ=60;EVDNC=DSCRD;IMPRECISE;MAPQ=60;MATEID=275359916:1;MATENM=-1;NM=-1;NUMPARTS=0;SCTG=chrM:0(-)-chrM:16641(+)__91_1_16571D;SPAN=16641;SVTYPE=BND	GT:AD:DP:GQ:PL:SR:DR:LR:LO	1/1:89:71:24.9:273.9,24.9,0:0:89:-274:274

I guess the point is that the coordinate of this SV is zero. In a VCF file, the position of each variant is represented by the POS field, which specifies its location on the reference genome (typically 1-based, meaning counting starts from 1). Therefore, the value of the POS field should be an integer greater than 0. So, what could be the reason of getting the result?

The command is

set -o pipefail
svaba run --threads 8 -a RAJI4 -G /home/hxbio04/hg19/genome.fa -t RAJI4.sorted.bam --max-coverage 50000 --hp

Best wishes!

gudeqing avatar Feb 22 '24 06:02 gudeqing