SVs identified in cancer-related COSMIC census genes in patient 51. All presented SVs are identified with both ONT and PacBio reads. Superscripts indicate the following: (*) marked SVs within known exons; (+) found as rare in 1KGP samples; and (s) identified by short-read SV inference methods, respectively. (A) An insertion in the BRCA1 gene identified in <1% of samples in 1KGP samples. (B) An insertion in the CHEK2 gene. (C) An insertion/duplication, deletion, and two duplications in the NOTCH1 gene, with deletion also found with short reads. All four SVs belong to the same haplotype as indicated by multiple long (both ONT and PacBio) reads spanning all of them at the same time. (D) An insertion and a deletion in the ZNF331 gene, with the later deletion within an exon in the NM_001317121 transcript and genotyped in <1% of 1KGP project samples. Both SVs belong to the same haplotype as indicated by long reads spanning all of them at the same time.
