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Species: Homo sapiens
Rearrangement type: Duplications

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Duplications 5' breakpoint 3' breakpoint Duplicated region Duplication length - bp Partially duplicated molecule length - bp Duplicates replication origin Location of the duplicated region Truncated or fused proteins Single mtDNA deletions Multiple mtDNA deletions Healthy tissues Parkinson Disease Inclusion Body Myositis Tumour Other clinical features References
Duplications 5' breakpoint 3' breakpoint Duplicated region Duplication length - bp Partially duplicated molecule length - bp Duplicates replication origin Location of the duplicated region Truncated or fused proteins Single mtDNA deletions Multiple mtDNA deletions Healthy tissues Parkinson Disease Inclusion Body Myositis Tumour Other clinical features References
563:360 563 360 360:563 204 16773 OH Duplicating part of minor and (...) Control Region Muscular exercise intolerance;(...) [2; 31; 32]
469:314 469 314 314:469 156 16725 OH Duplicating part of minor and (...) Control Region PEO Control [8]
493:301 493 301 301:493 193 16762 OH Duplicating part of minor and (...) Control Region Mitochondrial myopathy Aged tissues; control [10; 11; 18]
498:306 498 306 306:498 193 16762 OH Duplicating part of minor and (...) Control Region PEO Control [8]
567:301 567 301 301:567 267 16836 OH Duplicating part of minor and (...) Control Region Aged tissues [18]
573:309 573 309 309:573 265 16834 OH Duplicating part of minor and (...) Control Region Mitochondrial myopathy Control Sun-exposed skin [6; 10; 11; 30; 31; 32]
573:316 573 316 316:573 258 16827 OH Duplicating part of minor and (...) Control Region PEO Control [8]
965:315 965 315 315:965 651 17220 OH Duplicating part of minor and (...) RNR1/Control Region PEO Control Exercise intolerance; Sun-expo(...) [8; 21; 31; 32]
2059:16071 2059 16071 16071:2059 2558 19127 OH Duplicating part of minor and (...) RNR2/Control Region Aged tissues [1]
3325:13452 3325 13452 13452:3325 6443 23012 OH Duplicating part of minor and (...) ND5/ND1 Diabetes mellitus [13]
3567:15548 3567 15548 15548:3567 4589 21158 OH Duplicating part of minor and (...) ND1/CYTB Late-onset myopathy [22]
3577:15547 3577 15547 15547:3577 4600 21169 OH Duplicating part of minor and (...) ND1/CYTB Late-onset progressive myopath(...) [7; 28]
4398:14882 4398 14882 14882:4398 6086 22655 OH Duplicating part of minor and (...) TRNQ/CYTB Diabetes mellitus [23]
5782:14302 5782 14302 14302:5782 8050 24619 OL and OH Duplicating part of minor and (...) TRNC/ND6 KSS [16]
5789:15450 5789 15450 15450:5789 6909 23478 OL and OH Duplicating part of minor and (...) TRNC/CYTB Mitochondrial encephalomyopath(...) [20]
5940:14289 5940 14289 14289:5940 8221 24790 OL and OH Duplicating part of minor and (...) COX1/ND6 KSS [29]
6000:14911 6000 14911 14911:6000 7659 24228 OL and OH Duplicating part of minor and (...) COX1/CYTB Mild mitochondrial encephalomy(...) [4]
6021:14848 6021 14848 14848:6021 7743 24312 OL and OH Duplicating part of minor and (...) COX1/CYTB PEO [28]
6125:15611 6125 15611 15611:6125 7084 23653 OL and OH Duplicating part of minor and (...) COX1/CYTB KSS [29]
6130:15056 6130 15056 15056:6130 7644 24213 OL and OH Duplicating part of minor and (...) COX1/CYTB KSS Diabetes mellitus [24; 14; 15]
6131:15056 6131 15056 15056:6131 7645 24214 OL and OH Duplicating part of minor and (...) COX1/CYTB KSS [9]
6332:14920 6332 14920 14920:6332 7982 24551 OL and OH Duplicating part of minor and (...) COX1/CYTB KSS [29]
7354:15913 7354 15913 15913:7354 8011 24580 OL and OH Duplicating part of minor and (...) COX1/TRNT Mitochondrial myopathy [14]
7357:15916 7357 15916 15916:7357 8011 24580 OL and OH Duplicating part of minor and (...) COX1/TRNT KSS Diabetes mellitus [24]
7360:14920 7360 14920 14920:7360 9010 25579 OL and OH Duplicating part of minor and (...) COX1/TRNT KSS [9]
7835:14331 7835 14331 14331:7835 10074 26643 OL and OH Duplicating part of minor and (...) COX2/ND6 KSS Leigh disease [5; 28]
7882:15696 7882 15696 15696:7882 8756 25325 OL and OH Duplicating part of minor and (...) COX2/CYTB KSS [3; 22; 29]
7983:15504 7983 15504 15504:7983 9049 25618 OL and OH Duplicating part of minor and (...) COX2/CYTB KSS [27]
8424:11503 8424 11503 11503:8424 13491 30060 OL and OH Duplicating part of minor and (...) ATP8/ND4 PEO [17]
8437:14068 8437 14068 14068:8437 10939 27508 OL and OH Duplicating part of minor and (...) ATP8/ND5 PS [26]
8476:14812 8476 14812 14812:8476 10234 26803 OL and OH Duplicating part of minor and (...) ATP8/CYTB KSS [25]
8482:13460 8482 13460 13460:8482 11592 28161 OL and OH Duplicating part of minor and (...) ATP8/ND5 KSS; PEO [5; 24; 25; 27]
8647:16086 8647 16086 16086:8647 9131 25700 OL and OH Duplicating part of minor and (...) ATP6/Control Region PEO Leukoencephalopathy; Ataxia; D(...) [27]
9497:13735 9497 13735 13735:9497 12332 28901 OL and OH Duplicating part of minor and (...) COX3/ND5 KSS [25]
11036:15439 11036 15439 15439:11036 12167 28736 OL and OH Duplicating part of minor and (...) ND4/CYTB PS [27]
12122:15844 12122 15844 15844:12122 12848 29417 OL and OH Duplicating part of minor and (...) ND4/CYTB KSS [12]
12205:15355 12205 15355 15355:12205 13420 29989 OL and OH Duplicating part of minor and (...) TRNH/CYTB PS [19]
8718:15239 8718 15239 15239:8718 10049 26618 OL and OH Duplicating part of minor and (...) ATP6/CYTB Proximal tubulopathy; Diabetes(...) [33]
498:308 498 308 308:498 191 16760 OH Duplicating part of minor and (...) Control Region Sun-exposed skin [31; 32]
463:314 463 314 314:463 150 16719 OH Duplicating part of minor and (...) Control Region Sun-exposed skin [31]
307:16189 307 16189 16189:307 688 17257 None Duplicating part of major arc Control Region Sun-exposed skin [31]
498:16189 498 16189 16189:498 879 17448 OH Duplicating part of minor and (...) Control Region Sun-exposed skin [31]
459:16184 459 16184 16184:459 845 17414 OH Duplicating part of minor and (...) Control Region Sun-exposed skin [31]
571:16263 571 16263 16263:571 878 17447 OH Duplicating part of minor and (...) Control Region Sun-exposed skin [31]