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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7056410inversion1nstd229human GRCh38 chr2: 155,671,571-160,808,437 , GRCh37.p13 chr2: 156,528,083-161,664,948 LOC105373714, PKP4-AS1, 64 more genes
    nsv7038090inversion1nstd229human GRCh38 chr2: 152,079,952-160,943,714 , GRCh37.p13 chr2: 152,936,466-161,800,225 , ITGB6, 105 more genes
    nsv6697890copy number variation1nstd229human GRCh38 chr2: 160,264,756-160,269,392 , GRCh37.p13 chr2: 161,121,267-161,125,903 LINC02478
    nsv6636665copy number variation1nstd102humanUncertain significance GRCh37 chr2: 160,733,756-161,196,968 , GRCh38.p12 chr2: 159,877,245-160,340,457 ITGB6, LOC105373717, 5 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
    nsv6313568copy number variation1nstd102humanPathogenic GRCh37 chr2: 158,950,827-164,456,735 , GRCh38.p12 chr2: 158,094,315-163,600,225 PSMD14-DT, DPP4, 70 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5691890mobile element insertion1nstd211human GRCh38 chr2: 160,262,229-160,262,229 , GRCh37.p13 chr2: 161,118,740-161,118,740 LINC02478
    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
    nsv5434730copy number variation1nstd206human GRCh38 chr2: 148,693,148-164,933,481 , GRCh37.p13 chr2: 149,450,717-165,789,991 , RBM43, 205 more genes
    nsv5409564mobile element insertion1nstd206human GRCh38 chr2: 160,262,229-160,262,280 , GRCh37.p13 chr2: 161,118,740-161,118,791 LINC02478
    nsv5366595translocation1nstd200human GRCh38 chr9: 104,584,050-104,584,050 , GRCh38 chr2: 160,272,150-160,272,150 , GRCh37.p13 chr9: 107,346,331-107,346,331 , GRCh37.p13 chr2: 161,128,661-161,128,661 RBMS1, LINC02478
    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
    nsv4924141copy number variation1nstd200human GRCh38 chr2: 159,769,702-160,320,035 , GRCh37.p13 chr2: 160,626,213-161,176,546 LOC105373717, ITGB6, 7 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4685668copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 160,075,929-164,666,149 , GRCh38.p12 chr2: 159,219,418-163,809,639 DPP4, FAP, 53 more genes
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