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Items: 1 to 20 of 390

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964748insertion1nstd209human GRCh38 chr1: 118,142,056-118,142,056 , GRCh37.p13 chr1: 118,684,679-118,684,679 SPAG17
    nsv5876984copy number variation1nstd209human GRCh38 chr1: 118,050,787-118,050,961 , GRCh37.p13 chr1: 118,593,410-118,593,584 SPAG17
    nsv5730330mobile element insertion1nstd211human GRCh38 chr1: 118,062,119-118,062,119 , GRCh37.p13 chr1: 118,604,742-118,604,742 SPAG17
    nsv5718957mobile element insertion2nstd211human GRCh38 chr1: 118,094,850-118,094,850 , GRCh37.p13 chr1: 118,637,473-118,637,473 SPAG17
    nsv5686620mobile element insertion1nstd211human GRCh38 chr1: 118,056,182-118,056,182 , GRCh37.p13 chr1: 118,598,805-118,598,805 SPAG17
    nsv5684616mobile element insertion1nstd211human GRCh38 chr1: 118,064,375-118,064,375 , GRCh37.p13 chr1: 118,606,998-118,606,998 SPAG17
    nsv5621650insertion1nstd207human GRCh38 chr1: 118,142,056-118,142,056 , GRCh37.p13 chr1: 118,684,679-118,684,679 SPAG17
    nsv5566017copy number variation1nstd207human GRCh38 chr1: 118,051,785-118,052,127 , GRCh37.p13 chr1: 118,594,408-118,594,750 SPAG17
    nsv5559444mobile element insertion1nstd206human GRCh38 chr1: 118,094,850-118,094,901 , GRCh37.p13 chr1: 118,637,473-118,637,524 SPAG17
    nsv5550243insertion1nstd206human GRCh38 chr1: 118,142,050-118,142,056 , GRCh37.p13 chr1: 118,684,673-118,684,679 SPAG17
    nsv5424340copy number variation1nstd206human GRCh38 chr1: 117,985,547-117,986,258 , GRCh37.p13 chr1: 118,528,170-118,528,881 SPAG17
    nsv5420519copy number variation1nstd206human GRCh38 chr1: 118,051,785-118,052,128 , GRCh37.p13 chr1: 118,594,408-118,594,751 SPAG17
    nsv5416664copy number variation1nstd206human GRCh38 chr1: 118,050,787-118,050,962 , GRCh37.p13 chr1: 118,593,410-118,593,585 SPAG17
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5363487translocation1nstd200human GRCh38 chr1: 118,007,745-118,007,745 , GRCh38 chr1: 118,009,965-118,009,965 , GRCh37.p13 chr1: 118,550,368-118,550,368 , GRCh37.p13 chr1: 118,552,588-118,552,588 SPAG17
    nsv5353825translocation1nstd200human GRCh38 chr1: 118,170,252-118,170,252 , GRCh38 chr1: 118,170,188-118,170,188 , GRCh37.p13 chr1: 118,712,811-118,712,811 , GRCh37.p13 chr1: 118,712,875-118,712,875 SPAG17
    nsv5353823translocation1nstd200human GRCh38 chr1: 118,050,962-118,050,962 , GRCh38 chr1: 118,050,787-118,050,787 , GRCh37.p13 chr1: 118,593,410-118,593,410 , GRCh37.p13 chr1: 118,593,585-118,593,585 SPAG17
    nsv5353822translocation1nstd200human GRCh38 chr1: 118,009,967-118,009,967 , GRCh38 chr1: 118,008,029-118,008,029 , GRCh37.p13 chr1: 118,552,590-118,552,590 , GRCh37.p13 chr1: 118,550,652-118,550,652 SPAG17
    nsv5333445translocation1nstd200human GRCh37 chr1: 118,712,811-118,712,811 , GRCh37 chr1: 118,712,875-118,712,875 , GRCh38.p12 chr1: 118,170,188-118,170,188 , GRCh38.p12 chr1: 118,170,252-118,170,252 SPAG17
    nsv5195902mobile element insertion1nstd203human GRCh38 chr1: 118,077,143-118,077,158 , GRCh37.p13 chr1: 118,619,766-118,619,781 SPAG17
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