In F8, our goal is to detect Intron 22 inversion involved in Hemophilia A. Paraphase does this by phasing haplotypes for the homology region where inversion breakpoints happen (a region that encodes F8A1, F8A2 and F8A3), and then checking the sequences flanking each haplotype for signals suggesting inversion. Another possible structural variant (SV) in F8, deletion of Exon1-22 (whose breakpoint also falls into the same homology region), is also called by Paraphase, although this variant is relatively easy to call with a standard depth based CNV caller.
sv_called
: reports deletion between int22h-1 and int22h-2 (which suggests Exon1-22 deletion), or inversion between int22h-1 and int22h-3 (which suggests Intron 22 inversion)
Note that the inversion and the deletion are also reported in the VCF as SVs.