Figure 5.

Examples of structural diversity at complex inversion regions resolved with ONT long reads. (A) HsInv0401 includes a 12.7 kb CNV with up to five copies per chromosome (blue arrows) located within the IRs at both sides of the inverted sequence (red arrow). (B) HsInv0012-0659 includes a polymorphic inversion (red, orange, and purple arrows), a 44 kb duplication and deletion (blue arrows), and an 18 kb insertion (green arrow). In this case, the GRCh38 (hg38) reference genome sequence is not supported by any other assembly we analyzed so far and might represent an assembly error. In both images, gray arrows correspond to nonvariable regions of inverted SDs, and numbers indicate the size of the different segments in kilobases.

2116f05