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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5367030translocation1nstd200human GRCh38 chr1: 44,000,266-44,000,266 , GRCh38 chr20: 2,822,147-2,822,147 , GRCh37.p13 chr1: 44,465,938-44,465,938 , GRCh37.p13 chr20: 2,802,793-2,802,793 SLC6A9
    nsv5344506translocation1nstd200human GRCh37 chr20: 2,802,793-2,802,793 , GRCh37 chr1: 44,465,938-44,465,938 , GRCh38.p12 chr20: 2,822,147-2,822,147 , GRCh38.p12 chr1: 44,000,266-44,000,266 SLC6A9
    nsv5203855copy number variation1nstd204human GRCh38.p13 chr1: 44,006,706-44,009,238 , GRCh37.p13 chr1: 44,472,378-44,474,910 SLC6A9
    nsv5201444mobile element deletion1nstd204human GRCh38.p13 chr1: 44,007,880-44,008,175 , GRCh37.p13 chr1: 44,473,552-44,473,847 SLC6A9
    nsv5187705mobile element insertion1nstd203human GRCh38 chr1: 44,004,733-44,004,747 , GRCh37.p13 chr1: 44,470,405-44,470,419 SLC6A9
    nsv5063760mobile element insertion1nstd203human GRCh38 chr1: 44,009,019-44,009,066 , GRCh37.p13 chr1: 44,474,691-44,474,738 SLC6A9
    nsv4906216copy number variation1nstd200human GRCh38 chr1: 44,025,381-44,071,780 , GRCh37.p13 chr1: 44,491,053-44,537,452 KLF17, SLC6A9, 1 more genes
    nsv4903417copy number variation1nstd200human GRCh38 chr1: 44,004,117-44,009,626 , GRCh37.p13 chr1: 44,469,789-44,475,298 SLC6A9
    nsv4780809copy number variation1nstd200human GRCh37 chr1: 44,469,789-44,475,298 , GRCh38.p12 chr1: 44,004,117-44,009,626 SLC6A9
    nsv4773302mobile element deletion1nstd200human GRCh37 chr1: 44,473,561-44,473,839 , GRCh38.p12 chr1: 44,007,889-44,008,167 SLC6A9
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674295copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,424,878-45,207,102 , GRCh38.p12 chr1: 43,959,206-44,741,430 RNU5D-1, ATP6V0B, 28 more genes
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4050814copy number variation1nstd166human GRCh37.p13 chr1: 44,473,602-45,303,007 , GRCh38.p12 chr1: 44,007,930-44,837,335 , LOC107984952, 38 more genes
    nsv4044345copy number variation1nstd166human GRCh37.p13 chr1: 44,490,535-44,490,715 , GRCh38.p12 chr1: 44,024,863-44,025,043 SLC6A9
    nsv4038467copy number variation1nstd166human GRCh37.p13 chr1: 44,496,042-44,496,101 , GRCh38.p12 chr1: 44,030,370-44,030,429 SLC6A9, LOC107984948
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