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481 - 13776 Homo sapiens - Deletions Deletion length: 13294 bp Removes OL Removing part of minor and major arcs |
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
[327] Nicholls, Thomas J., et al., Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Human Molecular Genetics. 2014. 23: p. 6147-6162.