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8482 - 13460
Homo sapiens - Duplications

Duplication length: 11592 bp
Duplicated region: 13460:8482

Partially duplicated molecule length: 28161 bp

Duplicates OL and OH
Duplicating part of minor and major arcs



Breakpoint flanking sequences
more information in Documentation - Flanking regions


8482
5fl vs 3del
Homology length: 13 bp

Non-duplicated region


13460
ACCACCTACCTCCCTCACCA 5'Breakpoint AAGCCCATAAAAATAAAAAA (...) CACTTCAACCTCCCTCACCA 3'Breakpoint TTGGCAGCCTAGCATTAGCA
5del vs 3del
Homology length: 1 bp

ACCACCTACCTCCCTCACCA 5'Breakpoint AAGCCCATAAAAATAAAAAA (...) CACTTCAACCTCCCTCACCA 3'Breakpoint TTGGCAGCCTAGCATTAGCA




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

 [5] Fromenty, B., et al., High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. American Journal of Medical Genetics. 1997. 71: p. 443-452

 [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.

 [25] Ferlin, T., et al., Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction. Molecular and Cellular Biochemistry. 1997. 174: p. 221-225.

 [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.