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8482 - 1345 Homo sapiens - Deletions Deletion length: 9431 bp Removes OH Inside the minor arc |
Breakpoint flanking sequences more information in Documentation - Flanking regions |
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Two-dimensional scatterplot showing the location of the selected deletion (red diamond) versus the full dataset (grey dots). Each point represents an mtDNA rearrangement with the 5’ breakpoint on the x-axis and the 3’ breakpoint on the y-axis. |
Circular mtDNA plot specifying the location of the deleted region (black bar). |
Length distribution of the deleted region in the selected deletion (red bar) versus the full dataset (grey bars) .The cases were grouped 100-nt windows. |
References
[347] Varhaug, K.N., et al., Using urine to diagnose large‐scale mtDNA deletions in adult patients..Annals of clinical and translational neurology . 2020. 7(8): p.1318-1326.