SV haplotype models of the proband generated by using Bionano OGM. (A) Models of the SV haplotypes of the proband (the red border boxes represent the SV regions). (B) Models of the distribution of Bionano labels between the reference genome and the sequenced sample in the RH gene region (the top figure presents the reference genome and the vertical lines on the axis indicate Bionano labels. The middle visualization depicts the Bionano analysis between the reference genome and the sequenced sample, with lines connecting the same label. The bottom part shows blue lines linking the reference genome with the corresponding exons of the proband. The light red triangle in the last 2 figures indicates the inserting region).