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5940 - 14289 Homo sapiens - Duplications Duplication length: 8221 bp Duplicated region: 14289:5940 Partially duplicated molecule length: 24790 bp Duplicates OL and OH Duplicating 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 duplication (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 duplicated region (black bar). |
Length distribution of the duplicated region in the selected duplication (red bar) versus the full dataset (grey bars) .The cases were grouped 100-nt windows. |
References
[29] Wilichowski, E., et al., Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre Syndrome.Pediatric Research. 1997. 41: p. 193-200.