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Items: 1 to 20 of 192

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5899525copy number variation1nstd209human GRCh38 chr2: 164,840,187-164,840,573 , GRCh37.p13 chr2: 165,696,697-165,697,083 LOC101929633, COBLL1
    nsv5576580copy number variation1nstd207human GRCh38 chr2: 164,840,187-164,840,573 , GRCh37.p13 chr2: 165,696,697-165,697,083 COBLL1, LOC101929633
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5445100copy number variation1nstd206human GRCh38 chr2: 164,731,077-165,066,763 , GRCh37.p13 chr2: 165,587,587-165,923,273 COBLL1, SLC38A11, 3 more genes
    nsv5434730copy number variation1nstd206human GRCh38 chr2: 148,693,148-164,933,481 , GRCh37.p13 chr2: 149,450,717-165,789,991 , RBM43, 205 more genes
    nsv5434082copy number variation1nstd206human GRCh38 chr2: 164,840,187-164,840,575 , GRCh37.p13 chr2: 165,696,697-165,697,085 LOC101929633, COBLL1
    nsv5350945translocation1nstd200human GRCh38 chr2: 164,840,575-164,840,575 , GRCh38 chr2: 164,840,187-164,840,187 , GRCh37.p13 chr2: 165,697,085-165,697,085 , GRCh37.p13 chr2: 165,696,697-165,696,697 LOC101929633, COBLL1
    nsv5338799translocation1nstd200human GRCh37 chr2: 165,696,697-165,696,697 , GRCh37 chr2: 165,697,085-165,697,085 , GRCh38.p12 chr2: 164,840,575-164,840,575 , GRCh38.p12 chr2: 164,840,187-164,840,187 LOC101929633, COBLL1
    nsv5327227inversion1nstd204human GRCh37.p13 chr2: 151,300,232-168,612,803 , GRCh38.p13 chr2: 150,443,718-167,756,293 , RND3, 198 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4928850copy number variation1nstd200human GRCh38 chr2: 164,771,586-164,884,420 , GRCh37.p13 chr2: 165,628,096-165,740,930 COBLL1, LOC101929633, 1 more genes
    nsv4928849copy number variation1nstd200human GRCh38 chr2: 164,769,781-165,091,565 , GRCh37.p13 chr2: 165,626,291-165,948,075 COBLL1, SLC38A11, 4 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    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
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4674258copy number variation1nstd102humanUncertain significance GRCh37 chr2: 165,676,080-165,768,131 , GRCh38.p12 chr2: 164,819,570-164,911,621 RNA5SP110, LOC101929633, 3 more genes
    nsv4595096copy number variation1nstd183human GRCh37 chr2: 165,703,732-165,739,532 , GRCh38.p12 chr2: 164,847,222-164,883,022 RNA5SP110, LOC101929633
    nsv4595095copy number variation1nstd183human GRCh37 chr2: 165,621,016-165,739,014 , GRCh38.p12 chr2: 164,764,506-164,882,504 COBLL1, RNA5SP110, 1 more genes
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