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Items: 1 to 20 of 147

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5327227inversion1nstd204human GRCh37.p13 chr2: 151,300,232-168,612,803 , GRCh38.p13 chr2: 150,443,718-167,756,293 , RND3, 198 more genes
    nsv5071233mobile element insertion1nstd203human GRCh38 chr2: 164,685,747-164,685,754 , GRCh37.p13 chr2: 165,542,257-165,542,264 COBLL1, SNORA70F
    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
    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
    nsv4582403copy number variation1nstd183human GRCh37 chr2: 165,512,866-165,574,739 , GRCh38.p12 chr2: 164,656,356-164,718,229 COBLL1, SNORA70F
    nsv4454316copy number variation1nstd102humanUncertain significance GRCh37 chr2: 165,492,423-165,973,543 , GRCh38.p12 chr2: 164,635,913-165,117,033 COBLL1, SLC38A11, 5 more genes
    nsv4346986copy number variation1nstd102humanPathogenic GRCh37 chr2: 162,485,583-168,295,583 , GRCh38.p12 chr2: 161,629,073-167,439,073 CYP2C56P, LOC101929532, 49 more genes
    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
    nsv3921316copy number variation1nstd102humanPathogenic NCBI36 chr2: 155,624,215-165,414,901 , GRCh37.p13 chr2: 155,915,969-165,706,655 , GRCh38.p12 chr2: 155,059,457-164,850,145 LOC105373712, MTCO1P45, 121 more genes
    nsv3920656copy number variation1nstd102humanPathogenic NCBI36 chr2: 164,217,738-169,989,662 , GRCh37.p13 chr2: 164,509,492-170,281,416 , GRCh38.p12 chr2: 163,652,982-169,424,906 RNU6-766P, SCN9A, 48 more genes
    nsv3917795copy number variation1nstd102humanUncertain significance NCBI36 chr2: 165,181,858-165,414,901 , GRCh37.p13 chr2: 165,473,612-165,706,655 , GRCh38.p12 chr2: 164,617,102-164,850,145 COBLL1, LOC101929633, 2 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
    nsv3907730copy number variation1nstd102humanPathogenic NCBI36 chr2: 164,020,046-167,527,078 , GRCh37 chr2: 164,311,800-167,818,832 , GRCh38 chr2: 163,455,290-166,962,322 FIGN, LOC100506124, 28 more genes
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