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Items: 1 to 20 of 109

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5433980copy number variation1nstd206human GRCh38 chr2: 134,994,230-135,317,838 , GRCh37.p13 chr2: 135,751,800-136,075,408 ZRANB3, RAB3GAP1, 2 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
    nsv4909417copy number variation1nstd200human GRCh38 chr2: 135,005,236-135,213,910 , GRCh37.p13 chr2: 135,762,806-135,971,480 ZRANB3, SNORA40B, 2 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4452826copy number variation1nstd102humanPathogenic GRCh37 chr2: 133,457,177-138,188,195 , GRCh38.p12 chr2: 132,699,604-137,430,625 UBBP1, THSD7B, 42 more genes
    nsv4451808copy number variation1nstd102humanUncertain significance GRCh37 chr2: 135,712,129-137,818,795 , GRCh38.p12 chr2: 134,954,559-137,061,225 MIR128-1, RNU6-512P, 22 more genes
    nsv4451207copy number variation1nstd102humanUncertain significance GRCh37 chr2: 135,825,388-135,916,905 , GRCh38.p12 chr2: 135,067,818-135,159,335 SNORA40B, RAB3GAP1
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3910856copy number variation1nstd102humanPathogenic NCBI36 chr2: 134,449,789-141,806,260 , GRCh37.p13 chr2: 134,733,319-142,089,790 , GRCh38.p12 chr2: 133,975,748-141,332,221 LOC105373643, RPS16P3, 73 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3906806copy number variation1nstd102humanUncertain significance GRCh38 chr2: 134,950,277-135,611,818 , NCBI36 chr2: 135,424,317-136,085,858 , GRCh37 chr2: 135,707,847-136,369,388 CCNT2, R3HDM1, 5 more genes
    nsv3897428copy number variation1nstd102humanPathogenic GRCh38 chr2: 123,445,762-140,592,538 , NCBI36 chr2: 123,919,808-141,066,577 , GRCh37 chr2: 124,203,338-141,350,107 ARHGAP42P2, LOC647996, 278 more genes
    nsv3896765copy number variation1nstd102humanUncertain significance GRCh38 chr2: 135,123,956-135,269,848 , GRCh37 chr2: 135,881,526-136,027,418 , NCBI36 chr2: 135,597,996-135,743,888 RAB3GAP1, ZRANB3, 1 more genes
    nsv3886445copy number variation1nstd102humanUncertain significance GRCh37 chr2: 135,887,061-136,251,548 , GRCh38.p12 chr2: 135,129,491-135,493,978 SNORA40B, ZRANB3, 1 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
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