965 - 315 Homo sapiens - Duplications Duplication length: 651 bp Duplicated region: 315:965 Partially duplicated molecule length: 17220 bp Duplicates OH Duplicating part of minor and major arcs	Breakpoint flanking sequences more information in Documentation - Flanking regions
	965 5fl vs 3del Homology length: 10 bp Non-duplicated region 315 TTTTAGATCACCCCCTCCCC ├ 5'Breakpoint ┤ AATAAAGCTAAAACTCACCT (...) CCACCAAACCCCCCCTCCCC ├ 3'Breakpoint ┤ CGCTTCTGGCCACAGCACTT 5fl vs 3fl Homology length: 1 bp TTTTAGATCACCCCCTCCCC ├ 5'Breakpoint ┤ AATAAAGCTAAAACTCACCT (...) CCACCAAACCCCCCCTCCCC ├ 3'Breakpoint ┤ CGCTTCTGGCCACAGCACTT

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:
PEO
Control
Exercise intolerance; Sun-exposed skin

References

 [8] Tengan, C. H., et al., Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions. Biochimica et Biophysica Acta. 2002. 1588(1): p. 65-70.

 [21] Mancuso, M., et al., A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome. Journal of Medical Genetics. 2004. 41: p.e73.

 [31] Wei, Y-H., et al., Tandem duplications and large-scale deletions of mitochondrial DNA are early molecular events of human ageing process.Annals of New York Academy of Sciences. 1996. 786: p. 82-101.

 [32] Krishnan, K. J. and Birch-Machin, M. A., The incidence of both tandem duplications and the common deletion in mtDNA from three distinct categories of sun-exposed human skin and in prolonged culture of fibroblasts.The Journal of Investigative Dermatology. 2006. 126(2): p. 408-415.