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7882 - 15696 Homo sapiens - Duplications Duplication length: 8756 bp Duplicated region: 15696:7882 Partially duplicated molecule length: 25325 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
[3] Tang, Y., et al., Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression. Molecular Biolology of the Cell. 2000. 11(4): p. 1471-85.
[22] Tang, Y., et al., Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Molecular Biology of the Cell. 2000. 11: p.2349-2358.
[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.