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498 - 306
Homo sapiens - Duplications

Duplication length: 193 bp
Duplicated region: 306:498

Partially duplicated molecule length: 16762 bp

Duplicates OH
Duplicating part of minor and major arcs



Breakpoint flanking sequences
more information in Documentation - Flanking regions


498
5fl vs 3del
Homology length: 3 bp

Non-duplicated region


306
ATCTCATCAATACAACCCCC 5'Breakpoint GCCCATCCTACCCAGCACAC (...) AAAAAATTTCCACCAAACCC 3'Breakpoint CCCCTCCCCCGCTTCTGGCC
5fl vs 3fl
Homology length: 4 bp

ATCTCATCAATACAACCCCC 5'Breakpoint GCCCATCCTACCCAGCACAC (...) AAAAAATTTCCACCAAACCC 3'Breakpoint CCCCTCCCCCGCTTCTGGCC




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

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.