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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
    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
    nsv4923900copy number variation1nstd200human GRCh38 chr2: 120,348,044-120,475,684 , GRCh37.p13 chr2: 121,105,620-121,233,260 INHBB, LINC01101
    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
    nsv4674739copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,903,294-123,099,547 , GRCh38.p12 chr2: 118,145,718-122,341,971 LOC101927709, NIFK-AS1, 55 more genes
    nsv4674710copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,872,395-128,069,813 , GRCh38.p12 chr2: 118,114,819-127,312,237 C2orf76, LOC107985817, 89 more genes
    nsv4674062copy number variation1nstd102humanPathogenic GRCh37 chr2: 115,416,190-122,399,064 , GRCh38.p12 chr2: 114,658,613-121,641,488 DPP10-AS3, HTR5BP, 71 more genes
    nsv4673926copy number variation1nstd102humanUncertain significance GRCh37 chr2: 120,613,138-121,287,716 , GRCh38.p12 chr2: 119,855,562-120,530,140 EPB41L5, MTND4P26, 15 more genes
    nsv4519384copy number variation1nstd166human GRCh37.p13 chr2: 119,819,998-124,091,000 , GRCh38.p12 chr2: 119,062,422-123,333,424 LOC105373593, LOC105373596, 54 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
    nsv3921001copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,444,912-126,178,935 , GRCh37.p13 chr2: 115,728,442-126,462,465 , GRCh38.p12 chr2: 114,970,865-125,704,888 RPL27P7, LINC01826, 94 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
    nsv3909109copy number variation1nstd102humanUncertain significance NCBI36 chr2: 120,219,230-120,943,091 , GRCh38 chr2: 119,745,184-120,469,045 , GRCh37 chr2: 120,502,760-121,226,621 MTND5P28, MTND3P10, 16 more genes
    nsv3895925copy number variation1nstd102humanPathogenic NCBI36 chr2: 119,161,875-122,095,860 , GRCh37 chr2: 119,445,405-122,379,390 , GRCh38 chr2: 118,687,829-121,621,814 TMEM177, GLI2, 41 more genes
    nsv3894414copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,843,900-135,722,308 , GRCh38 chr2: 118,086,324-134,964,738 , NCBI36 chr2: 118,560,370-135,438,778 RHOQP2, POTEE, 287 more genes
    nsv3892279copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130 MAP3K2, RPL27P7, 144 more genes
    nsv3889486copy number variation1nstd102humanPathogenic GRCh37 chr2: 114,707,932-124,328,692 , GRCh38.p12 chr2: 113,950,355-123,571,116 LOC107985817, GLI2, 91 more genes
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