6130 - 15056 Homo sapiens - Duplications Duplication length: 7644 bp Duplicated region: 15056:6130 Partially duplicated molecule length: 24213 bp Duplicates OL and OH Duplicating part of minor and major arcs	Breakpoint flanking sequences more information in Documentation - Flanking regions
	6130 Non-duplicated region 15056 GTAATACCCATCATAATCGG ├ 5'Breakpoint ┤ AGGCTTTGGCAACTGACTAG (...) ACATCGGGCGAGGCCTATAT ├ 3'Breakpoint ┤ TACGGATCATTTCTCTACTC

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.

Present in:
KSS
Diabetes mellitus

References

 [14] Poulton, J., et al., Duplications of mitochondrial DNA: Implications in pathogenesis. Journal of Inherited Metabolism Disorders. 1992. 15: p. 487-498.

 [15] Marchington, D. R., et al., Evidence from human oocytes for a genetic bottleneck in an mtDNA disease. American Journal of Human Genetics. 1998. 63: p. 769-775.

 [24] Poulton, J., et al., Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Human Molecular Genetics. 1993. 2(1): p. 23-30.