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Description
Dears,
I've been using the clinSV software for structural variant detection recently, and I have some questions regarding the BND-type results, for example:
chr1 89121966 Lumpy_94875_1 N [chr21:45417197[N . PASS SVTYPE=BND;END=45417197;STRANDS=--:17;CIPOS=-10,9;CIEND=-6,3;CIPOS95=0,0;CIEND95=0,0;MATEID=94875_2;EVENT=94875;SU=17;PE=11;SR=6;LOCATION=chr1:89121966,chr21:45417197;CNV=0;CHR2=chr21;TOOL=Lumpy;EVTYPE=PE11,SR6,RD;PAFDGV=-1;PAC=0;PAFV=0;PAF1KG=-1;NUMG=2;GENES="COL18A1,GBP2";GDESC="GBP2,ensembl_havana,start_codon,ENST00000370466|COL18A1,ensembl_havana,transcript,ENST00000651438";HPO="0001627:0000606:0001250:0000545:0000014:0004327:0010566:0012718:0011603:0001317:0002269:0100547:0000492:0000924:0002011:0002921:0001322:0008059:0000486:0001382:0011534:0012372:0001643:0002084:0000481:0011815:0000572:0002692:0000546:0012547:0010935:0000284:0000271:0000519:0002012:0011492:0011024:0002060:0002977:0002577:0004400:0011821:0000505:0002021:0000667:0005557:0002648:0000079:0000585:0002664:0004328:0000478:0000272:0001268:0003812:0001083:0002126:0002085:0002118:0000309:0011282:0007367:0000496:0001999:0007957:0012373:0002119:0012369:0000549:0000069:0000007:0002715:0004307:0001696:0012374:0012443:0000539:0011792:0010936:0000504:0011842:0100764:0011446:0000707:0000119:0001626:0000422:0001251:0000517:0000238:0002059:0000479:0000541:0001272:0011003:0001367:0005280:0100543:0004329:0009121:0000655:0001103:0002536:0000009:0008061:0000234:0012639:0000076:0011493:0001098:0000152:0001438:0008057:0007759:0000929:0008056:0007369:0012638:0012444:0001651:0002683:0011729:0100763:0000518:0000639:0002538:0011283:0011442:0002564:0000366:0011443:0001362:0000286:0001104|";AC=2;AN=2 GT:SU:PAFSU:PE:SR:DBP:DRF:DRA:MQBP:FT:PAFDRA:RARE 1/1:17:0:11:6:39:-1:-1:60:HIGH:0:1
Based on the results above, we know it is a translocation event involving DNA segments. According to the specifications in the VCFv4.3.pdf document, we also know that one of the fragments is joined in reverse-complement orientation to the other segment. Given this, could this event represent both a translocation and an inversion?