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Items: 1 to 20 of 184

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112672copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,972-45,979,054 , GRCh38.p12 chr1: 45,500,300-45,513,382 CCDC163, PRDX1, 1 more genes
    nsv5877305copy number variation1nstd209human GRCh38 chr1: 45,517,815-45,517,910 , GRCh37.p13 chr1: 45,983,487-45,983,582 PRDX1
    nsv5573490copy number variation1nstd207human GRCh38 chr1: 45,517,815-45,517,910 , GRCh37.p13 chr1: 45,983,487-45,983,582 PRDX1
    nsv5430048copy number variation1nstd206human GRCh38 chr1: 45,517,817-45,517,911 , GRCh37.p13 chr1: 45,983,489-45,983,583 PRDX1
    nsv5383774copy number variation2nstd186human GRCh37 chr1: 45,983,489-45,983,583 , GRCh38.p12 chr1: 45,517,817-45,517,911 PRDX1
    nsv5281582copy number variation1nstd204human GRCh38.p13 chr1: 45,517,817-45,517,911 , GRCh37.p13 chr1: 45,983,489-45,983,583 PRDX1
    nsv5205415copy number variation1nstd204human GRCh38.p13 chr1: 45,510,308-45,512,657 , GRCh37.p13 chr1: 45,975,980-45,978,329 MMACHC, PRDX1
    nsv4906289copy number variation1nstd200human GRCh38 chr1: 45,517,817-45,517,911 , GRCh37.p13 chr1: 45,983,489-45,983,583 PRDX1
    nsv4773352copy number variation1nstd200human GRCh37 chr1: 45,983,489-45,983,583 , GRCh38.p12 chr1: 45,517,817-45,517,911 PRDX1
    nsv4773351copy number variation1nstd200human GRCh37 chr1: 45,974,910-45,977,043 , GRCh38.p12 chr1: 45,509,238-45,511,371 MMACHC, PRDX1
    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
    nsv4749608copy number variation1nstd199human GRCh37 chr1: 45,983,481-45,983,578 , GRCh38.p12 chr1: 45,517,809-45,517,906 PRDX1
    nsv4681807copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,995-45,974,897 , GRCh38.p12 chr1: 45,500,323-45,509,225 MMACHC, PRDX1, 1 more genes
    nsv4681710copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,973,008-45,974,907 , GRCh38.p12 chr1: 45,507,336-45,509,235 PRDX1, MMACHC
    nsv4674088copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,386,263-45,982,314 , GRCh38.p12 chr1: 44,920,591-45,516,642 TOE1, EIF2B3, 17 more genes
    nsv4636261copy number variation1nstd186human GRCh37 chr1: 45,983,486-45,983,583 , GRCh38.p12 chr1: 45,517,814-45,517,911 PRDX1
    nsv4573285mobile element insertion1nstd166human GRCh37.p13 chr1: 45,980,323-45,980,323 , GRCh38.p12 chr1: 45,514,651-45,514,651 PRDX1
    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
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