Fig. 7.

Structural variants identified by aCGH and their status after nanopore analysis. Concentric semi-dashed circumferences represent P1–7 from outermost to innermost, while the most external one shows genome coordinates and karyotype. Each dot represents an SV call from aCGH, and its color indicates whether it was found by our nanopore analysis and how. A) Results obtained using hg38 as a reference. B) Results obtained using hg19 as a reference. Coordinates are taken from aCGH results. Variants that would obscure each other are shifted away from the semi-dashed lines to avoid this; check Supplementary Table 1 for the full list of coordinates. SVs found by variant callers are colored green; those only found by our coverage analysis, blue; and those not found, red. Nearby dots have been shifted across the radius so as to not obscure the close SVs. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)