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Items: 1 to 20 of 307

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5971538inversion1nstd209human GRCh38 chr21: 39,309,731-39,889,526 , GRCh37.p13 chr21: 40,681,657-41,261,451 HMGN1, PCP4, 18 more genes
    nsv5950262copy number variation1nstd209human GRCh38 chr21: 39,418,045-39,418,778 , GRCh37.p13 chr21: 40,789,971-40,790,704 GET1, LCA5L, 1 more genes
    nsv5725873mobile element insertion2nstd211human GRCh38 chr21: 39,422,591-39,422,591 , GRCh37.p13 chr21: 40,794,517-40,794,517 GET1, LCA5L, 1 more genes
    nsv5586888copy number variation1nstd207human GRCh38 chr21: 39,418,045-39,418,778 , GRCh37.p13 chr21: 40,789,971-40,790,704 GET1, LCA5L, 1 more genes
    nsv5563276sequence alteration1nstd206human GRCh38 chr21: 39,406,997-39,425,906 , GRCh37.p13 chr21: 40,778,923-40,797,832 GET1, LCA5L, 1 more genes
    nsv5559211mobile element insertion1nstd206human GRCh38 chr21: 39,422,591-39,422,642 , GRCh37.p13 chr21: 40,794,517-40,794,568 GET1, LCA5L, 1 more genes
    nsv5551703copy number variation1nstd206human GRCh38 chr21: 39,406,961-39,425,946 , GRCh37.p13 chr21: 40,778,887-40,797,872 GET1, LCA5L, 1 more genes
    nsv5543749copy number variation1nstd206human GRCh38 chr21: 39,417,780-39,418,751 , GRCh37.p13 chr21: 40,789,706-40,790,677 LCA5L, GET1, 1 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5536263copy number variation1nstd206human GRCh38 chr21: 39,428,491-39,428,582 , GRCh37.p13 chr21: 40,800,417-40,800,508 GET1, LCA5L, 1 more genes
    nsv5322930copy number variation1nstd204human GRCh38.p13 chr21: 39,403,054-40,536,759 , GRCh37.p13 chr21: 40,774,980-41,908,686 GET1-SH3BGR, RPS26P4, 16 more genes
    nsv5299614copy number variation1nstd204human GRCh38.p13 chr21: 39,412,597-39,440,226 , GRCh37.p13 chr21: 40,784,523-40,812,152 GET1-SH3BGR, GET1, 1 more genes
    nsv5294352copy number variation1nstd204human GRCh38.p13 chr21: 39,403,410-39,411,271 , GRCh37.p13 chr21: 40,775,336-40,783,197 LCA5L, GET1, 1 more genes
    nsv5286853copy number variation1nstd204human GRCh38.p13 chr21: 39,403,801-40,034,600 , GRCh37.p13 chr21: 40,775,727-41,406,527 JCADP1, B3GALT5, 13 more genes
    nsv5198180mobile element insertion1nstd203human GRCh38 chr21: 39,410,428-39,410,441 , GRCh37.p13 chr21: 40,782,354-40,782,367 GET1, LCA5L, 1 more genes
    nsv5039394copy number variation1nstd200human GRCh38 chr21: 39,403,851-39,404,999 , GRCh37.p13 chr21: 40,775,777-40,776,925 GET1-SH3BGR, GET1, 1 more genes
    nsv5038969copy number variation1nstd200human GRCh38 chr21: 39,429,226-39,440,299 , GRCh37.p13 chr21: 40,801,152-40,812,225 GET1-SH3BGR, LCA5L
    nsv5037404copy number variation1nstd200human GRCh38 chr21: 39,424,011-39,424,146 , GRCh37.p13 chr21: 40,795,937-40,796,072 GET1-SH3BGR, GET1, 1 more genes
    nsv5034932copy number variation1nstd200human GRCh38 chr21: 39,433,626-39,441,758 , GRCh37.p13 chr21: 40,805,552-40,813,684 LCA5L, GET1-SH3BGR
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