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3577 - 15547
Homo sapiens - Duplications

Duplication length: 4600 bp
Duplicated region: 15547:3577

Partially duplicated molecule length: 21169 bp

Duplicates OH
Duplicating part of minor and major arcs



Breakpoint flanking sequences
more information in Documentation - Flanking regions


3577
5fl vs 3del
Homology length: 10 bp

Non-duplicated region


15547
ACTATGAACCCCCCTCCCCA 5'Breakpoint TACCCAACCCCCTGGTCAAC (...) CCCTTAAACACCCCTCCCCA 3'Breakpoint CATCAAGCCCGAATGATATT
5fl vs 3fl
Homology length: 2 bp

ACTATGAACCCCCCTCCCCA 5'Breakpoint TACCCAACCCCCTGGTCAAC (...) CCCTTAAACACCCCTCCCCA 3'Breakpoint CATCAAGCCCGAATGATATT




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

 [7] Manfredi, G., et al., Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?. Annals of Neurology. 1997. 42(2): p. 180-188.

 [28] Fromenty, B., et al., Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochimica et Biophysica Acta. 1993. 1308: p. 222-230.