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Items: 1 to 20 of 278

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5962262insertion1nstd209human GRCh38 chr2: 174,354,538-174,354,538 , GRCh37.p13 chr2: 175,219,266-175,219,266 CIR1
    nsv5899497copy number variation1nstd209human GRCh38 chr2: 174,354,568-174,354,645 , GRCh37.p13 chr2: 175,219,296-175,219,373 CIR1
    nsv5719389mobile element insertion2nstd211human GRCh38 chr2: 174,386,495-174,386,495 , GRCh37.p13 chr2: 175,251,223-175,251,223 CIR1
    nsv5692970mobile element insertion1nstd211human GRCh38 chr2: 174,383,861-174,383,861 , GRCh37.p13 chr2: 175,248,589-175,248,589 CIR1
    nsv5581362copy number variation1nstd207human GRCh38 chr2: 174,354,530-174,354,596 , GRCh37.p13 chr2: 175,219,258-175,219,324 CIR1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5556233mobile element insertion1nstd206human GRCh38 chr2: 174,386,495-174,386,546 , GRCh37.p13 chr2: 175,251,223-175,251,274 CIR1
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5447623copy number variation1nstd206human GRCh38 chr2: 174,383,705-174,383,832 , GRCh37.p13 chr2: 175,248,433-175,248,560 CIR1
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5201390mobile element deletion1nstd204human GRCh38.p13 chr2: 174,376,506-174,376,830 , GRCh37.p13 chr2: 175,241,234-175,241,558 CIR1
    nsv5199227mobile element insertion1nstd203human GRCh38 chr2: 174,386,483-174,386,495 , GRCh37.p13 chr2: 175,251,211-175,251,223 CIR1
    nsv5185864mobile element insertion1nstd203human GRCh38 chr2: 174,386,479-174,386,495 , GRCh37.p13 chr2: 175,251,207-175,251,223 CIR1
    nsv5061685mobile element insertion1nstd203human GRCh38 chr2: 174,392,929-174,392,945 , GRCh37.p13 chr2: 175,257,657-175,257,673 CIR1
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4874479mobile element deletion1nstd200human GRCh38 chr2: 174,376,515-174,376,823 , GRCh37.p13 chr2: 175,241,243-175,241,551 CIR1
    nsv4777424mobile element deletion1nstd200human GRCh37 chr2: 175,241,243-175,241,551 , GRCh38.p12 chr2: 174,376,515-174,376,823 CIR1
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4763749insertion1nstd199human GRCh37 chr2: 175,260,388-175,260,388 , GRCh38.p12 chr2: 174,395,660-174,395,660 CIR1, SCRN3
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