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Items: 1 to 20 of 270

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5684580mobile element insertion1nstd211human GRCh38 chr1: 180,983,039-180,983,039 , GRCh37.p13 chr1: 180,952,175-180,952,175 STX6
    nsv5618972insertion1nstd207human GRCh38 chr1: 181,023,028-181,023,028 , GRCh37.p13 chr1: 180,992,164-180,992,164 STX6
    nsv5612717insertion1nstd207human GRCh38 chr1: 181,023,068-181,023,068 , GRCh37.p13 chr1: 180,992,204-180,992,204 STX6
    nsv5610027insertion1nstd207human GRCh38 chr1: 181,023,104-181,023,104 , GRCh37.p13 chr1: 180,992,240-180,992,240 STX6
    nsv5440980copy number variation1nstd206human GRCh38 chr1: 181,022,590-181,022,729 , GRCh37.p13 chr1: 180,991,726-180,991,865 STX6
    nsv5394191mobile element insertion1nstd206human GRCh38 chr1: 180,983,039-180,983,090 , GRCh37.p13 chr1: 180,952,175-180,952,226 STX6
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5289585copy number variation1nstd204human GRCh38.p13 chr1: 181,023,170-181,023,755 , GRCh37.p13 chr1: 180,992,306-180,992,891 STX6
    nsv5287424copy number variation1nstd204human GRCh38.p13 chr1: 181,014,766-181,017,631 , GRCh37.p13 chr1: 180,983,902-180,986,767 STX6
    nsv5079375mobile element insertion1nstd203human GRCh38 chr1: 180,983,022-180,983,039 , GRCh37.p13 chr1: 180,952,158-180,952,175 STX6
    nsv4898313copy number variation1nstd200human GRCh38 chr1: 181,023,178-181,023,747 , GRCh37.p13 chr1: 180,992,314-180,992,883 STX6
    nsv4898312copy number variation1nstd200human GRCh38 chr1: 181,015,431-181,028,454 , GRCh37.p13 chr1: 180,984,567-180,997,590 STX6
    nsv4898311copy number variation1nstd200human GRCh38 chr1: 180,970,584-180,972,133 , GRCh37.p13 chr1: 180,939,720-180,941,269 STX6
    nsv4784864copy number variation1nstd200human GRCh37 chr1: 180,992,314-180,992,883 , GRCh38.p12 chr1: 181,023,178-181,023,747 STX6
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4728161copy number variation1nstd102humanUncertain significance GRCh37 chr1: 180,908,145-181,004,325 , GRCh38.p12 chr1: 180,939,009-181,035,189 KIAA1614-AS1, MR1, 4 more genes
    nsv4674353copy number variation1nstd102humanLikely benign GRCh37 chr1: 180,818,504-181,422,323 , GRCh38.p12 chr1: 180,849,368-181,453,187 LINC01732, LINC02816, 12 more genes
    nsv4674293copy number variation1nstd102humanUncertain significance GRCh37 chr1: 180,586,428-183,178,629 , GRCh38.p12 chr1: 180,617,292-183,209,494 RNU6-152P, TEDDM1, 45 more genes
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