8647 - 16086 Homo sapiens - Duplications Duplication length: 9131 bp Duplicated region: 16086:8647 Partially duplicated molecule length: 25700 bp Duplicates OL and OH Duplicating part of minor and major arcs	Breakpoint flanking sequences more information in Documentation - Flanking regions
	8647 Non-duplicated region 16086 CAAATATCTCATCAACAACC ├ 5'Breakpoint ┤ GACTAATCACCACCCAACAA (...) ACTCACCCATCAACAACCGC ├ 3'Breakpoint ┤ TATGTATTTCGTACATTACT

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
Leukoencephalopathy; Ataxia; Deafness

References

 [27] Odoardi, F., et al., Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. American Journal of Medical Genetics. 2003. 118A: p. 247-254.