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Items: 1 to 20 of 198

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5830219copy number variation2nstd209human GRCh38 chr1: 46,584,866-46,587,210 , GRCh37.p13 chr1: 47,050,538-47,052,882 MKNK1
    nsv5830218copy number variation1nstd209human GRCh38 chr1: 46,584,338-46,587,560 , GRCh37.p13 chr1: 47,050,010-47,053,232 MKNK1
    nsv5430748copy number variation1nstd206human GRCh38 chr1: 46,556,854-46,557,144 , GRCh37.p13 chr1: 47,022,526-47,022,816 MKNK1, MKNK1-AS1
    nsv5421554copy number variation1nstd206human GRCh38 chr1: 46,563,064-46,563,414 , GRCh37.p13 chr1: 47,028,736-47,029,086 MKNK1, MKNK1-AS1
    nsv5069950mobile element insertion1nstd203human GRCh38 chr1: 46,564,027-46,564,044 , GRCh37.p13 chr1: 47,029,699-47,029,716 MKNK1, MKNK1-AS1
    nsv4903456copy number variation1nstd200human GRCh38 chr1: 46,556,854-46,557,144 , GRCh37.p13 chr1: 47,022,526-47,022,816 MKNK1, MKNK1-AS1
    nsv4889990copy number variation1nstd200human GRCh38 chr1: 46,538,221-46,605,477 , GRCh37.p13 chr1: 47,003,893-47,071,149 MKNK1, MKNK1-AS1, 1 more genes
    nsv4780828copy number variation1nstd200human GRCh37 chr1: 47,022,526-47,022,816 , GRCh38.p12 chr1: 46,556,854-46,557,144 MKNK1, MKNK1-AS1
    nsv4773402copy number variation1nstd200human GRCh37 chr1: 47,028,736-47,029,086 , GRCh38.p12 chr1: 46,563,064-46,563,414 MKNK1, MKNK1-AS1
    nsv4773401copy number variation1nstd200human GRCh37 chr1: 47,003,893-47,071,149 , GRCh38.p12 chr1: 46,538,221-46,605,477 MKNK1, KNCN, 1 more genes
    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
    nsv4674638copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,768,408-47,174,149 , GRCh38.p12 chr1: 46,302,736-46,708,477 UQCRH, MKNK1-AS1, 17 more genes
    nsv4581137copy number variation1nstd183human GRCh37 chr1: 47,007,844-47,069,845 , GRCh38.p12 chr1: 46,542,172-46,604,173 MKNK1, KNCN, 1 more genes
    nsv4461767mobile element insertion1nstd166human GRCh37.p13 chr1: 47,023,169-47,023,169 , GRCh38.p12 chr1: 46,557,497-46,557,497 MKNK1, MKNK1-AS1
    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
    nsv4043586copy number variation1nstd166human GRCh37.p13 chr1: 47,063,464-47,063,524 , GRCh38.p12 chr1: 46,597,792-46,597,852 MKNK1
    nsv4036719copy number variation1nstd166human GRCh37.p13 chr1: 47,022,526-47,022,816 , GRCh38.p12 chr1: 46,556,854-46,557,144 MKNK1, MKNK1-AS1
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