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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7050777inversion1nstd229human GRCh38 chr2: 117,420,323-122,585,255 , GRCh37.p13 chr2: 118,177,899-123,342,831 LOC105373578, RPL17P15, 65 more genes
    nsv7038170inversion1nstd229human GRCh38 chr2: 119,747,881-120,301,832 , GRCh37.p13 chr2: 120,505,457-121,059,408 RPL27P7, MTND5P28, 12 more genes
    nsv6694258copy number variation1nstd229human GRCh38 chr2: 120,215,301-120,582,100 , GRCh37.p13 chr2: 120,972,877-121,339,676 INHBB, LOC105373585, 8 more genes
    nsv6636914copy number variation1nstd102humanUncertain significance GRCh37 chr2: 120,729,215-121,383,896 , GRCh38.p12 chr2: 119,971,639-120,626,320 MTND4P26, EPB41L5, 16 more genes
    nsv6636871copy number variation1nstd102humanPathogenic GRCh37 chr2: 116,761,476-123,897,262 , GRCh38.p12 chr2: 116,003,900-123,139,686 LOC105373578, RPL17P15, 78 more genes
    nsv6553311inversion1nstd223human GRCh38 chr2: 113,382,126-121,687,299 , GRCh37.p13 chr2: 114,139,703-122,444,875 RPSAP23, CCDC93, 98 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315168copy number variation1nstd102humanPathogenic GRCh37 chr2: 120,628,484-127,658,188 , GRCh38.p12 chr2: 119,870,908-126,900,612 TSN, LOC107985817, 58 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6313770copy number variation1nstd102humanPathogenic GRCh37 chr2: 113,188,197-128,144,700 , GRCh38.p12 chr2: 112,430,620-127,387,124 LOC105373575, RPS20P11, 174 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290805copy number variation1nstd102humanUncertain significance GRCh37 chr2: 119,967,365-121,555,029 , GRCh38.p12 chr2: 119,209,789-120,797,453 LOC101927764, MTND5P28, 29 more genes
    nsv6134420copy number variation1nstd213human GRCh37 chr2: 117,140,000-144,230,001 , GRCh38.p12 chr2: 116,382,424-143,472,432 BIN1, CCNT2, 382 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 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
    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
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4743379copy number variation1nstd199human GRCh37 chr2: 88,481,090-124,440,189 , GRCh38.p12 chr9: 40,649,751-63,450,622 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 88,181,571-123,682,613 , EIF2AK3, 861 more genes
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