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Items: 1 to 20 of 334

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137803copy number variation1nstd102humanPathogenic GRCh37 chr3: 193,355,741-193,355,854 , GRCh38.p12 chr3: 193,637,952-193,638,065 OPA1
    nsv5958282insertion1nstd209human GRCh38 chr3: 193,636,369-193,636,369 , GRCh37.p13 chr3: 193,354,158-193,354,158 OPA1
    nsv5956762insertion1nstd209human GRCh38 chr3: 193,666,183-193,666,183 , GRCh37.p13 chr3: 193,383,972-193,383,972 OPA1, LOC102724808
    nsv5895092copy number variation1nstd209human GRCh38 chr3: 193,675,121-193,675,194 , GRCh37.p13 chr3: 193,392,910-193,392,983 LOC102724808, OPA1
    nsv5835507copy number variation1nstd209human GRCh38 chr3: 193,687,651-193,689,650 , GRCh37.p13 chr3: 193,405,440-193,407,439 OPA1
    nsv5719012mobile element insertion2nstd211human GRCh38 chr3: 193,636,386-193,636,386 , GRCh37.p13 chr3: 193,354,175-193,354,175 OPA1
    nsv5680976mobile element insertion1nstd211human GRCh38 chr3: 193,648,338-193,648,338 , GRCh37.p13 chr3: 193,366,127-193,366,127 OPA1, LOC102724808
    nsv5679285mobile element insertion1nstd211human GRCh38 chr3: 193,645,116-193,645,116 , GRCh37.p13 chr3: 193,362,905-193,362,905 OPA1
    nsv5621941insertion1nstd207human GRCh38 chr3: 193,637,196-193,637,196 , GRCh37.p13 chr3: 193,354,985-193,354,985 OPA1
    nsv5615359insertion1nstd207human GRCh38 chr3: 193,636,369-193,636,369 , GRCh37.p13 chr3: 193,354,158-193,354,158 OPA1
    nsv5610462insertion1nstd207human GRCh38 chr3: 193,648,324-193,648,324 , GRCh37.p13 chr3: 193,366,113-193,366,113 LOC102724808, OPA1
    nsv5559992mobile element insertion1nstd206human GRCh38 chr3: 193,636,386-193,636,437 , GRCh37.p13 chr3: 193,354,175-193,354,226 OPA1
    nsv5453639copy number variation1nstd206human GRCh38 chr3: 163,047,000-198,226,000 , GRCh37.p13 chr3: 162,764,788-197,952,871 , MIR922, 587 more genes
    nsv5450426copy number variation1nstd206human GRCh38 chr3: 193,686,892-193,687,014 , GRCh37.p13 chr3: 193,404,681-193,404,803 OPA1
    nsv5352370translocation1nstd200human GRCh38 chr3: 193,687,014-193,687,014 , GRCh38 chr3: 193,686,892-193,686,892 , GRCh37.p13 chr3: 193,404,803-193,404,803 , GRCh37.p13 chr3: 193,404,681-193,404,681 OPA1
    nsv5317421copy number variation1nstd204human GRCh38.p13 chr3: 193,300,131-193,832,603 , GRCh37.p13 chr3: 193,017,920-193,550,392 EEF1A1P23, ATP13A5, 10 more genes
    nsv5302932copy number variation1nstd204human GRCh37.p13 chr3: 193,400,954-193,402,251 , GRCh38.p13 chr3: 193,683,165-193,684,462 OPA1, LOC102724808
    nsv5233731copy number variation1nstd204human GRCh38.p13 chr3: 193,676,787-193,677,886 , GRCh37.p13 chr3: 193,394,576-193,395,675 LOC102724808, OPA1
    nsv5231462copy number variation1nstd204human GRCh38.p13 chr3: 193,688,751-193,711,607 , GRCh37.p13 chr3: 193,406,540-193,429,396 OPA1
    nsv5226499copy number variation1nstd204human GRCh38.p13 chr3: 193,635,378-193,637,303 , GRCh37.p13 chr3: 193,353,167-193,355,092 OPA1
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