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Items: 1 to 20 of 371

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6126099insertion1nstd186human GRCh37 chr2: 166,787,276-166,787,292 , GRCh38.p12 chr2: 165,930,766-165,930,782 TTC21B
    nsv5953076insertion1nstd209human GRCh38 chr2: 165,947,156-165,947,156 , GRCh37.p13 chr2: 166,803,666-166,803,666 TTC21B, TTC21B-AS1
    nsv5947734insertion1nstd209human GRCh38 chr2: 165,930,732-165,930,732 , GRCh37.p13 chr2: 166,787,242-166,787,242 TTC21B
    nsv5831730copy number variation1nstd209human GRCh38 chr2: 165,947,013-165,954,780 , GRCh37.p13 chr2: 166,803,523-166,811,290 TTC21B, TTC21B-AS1
    nsv5831421copy number variation2nstd209human GRCh38 chr2: 165,952,447-165,953,880 , GRCh37.p13 chr2: 166,808,957-166,810,390 TTC21B
    nsv5673293copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,605,291-167,168,266 , GRCh38.p12 chr2: 165,748,781-166,311,756 GALNT3, SCN1A, 7 more genes
    nsv5623280insertion1nstd207human GRCh38 chr2: 165,930,730-165,930,730 , GRCh37.p13 chr2: 166,787,240-166,787,240 TTC21B
    nsv5610007insertion1nstd207human GRCh38 chr2: 165,920,745-165,920,745 , GRCh37.p13 chr2: 166,777,255-166,777,255 TTC21B
    nsv5583133copy number variation1nstd207human GRCh38 chr2: 165,927,122-165,927,171 , GRCh37.p13 chr2: 166,783,632-166,783,681 TTC21B
    nsv5564252copy number variation5nstd102humanPathogenic GRCh37 chr2: 165,946,660-167,168,266 , GRCh38.p12 chr2: 165,090,150-166,311,756 TTC21B-AS1, RN7SKP152, 11 more genes
    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
    nsv5549884insertion1nstd206human GRCh38 chr2: 165,930,766-165,930,782 , GRCh37.p13 chr2: 166,787,276-166,787,292 TTC21B
    nsv5452564copy number variation1nstd206human GRCh38 chr2: 165,875,387-165,875,538 , GRCh37.p13 chr2: 166,731,897-166,732,048 TTC21B
    nsv5451816copy number variation1nstd206human GRCh38 chr2: 165,907,717-165,910,593 , GRCh37.p13 chr2: 166,764,227-166,767,103 TTC21B
    nsv5335053translocation1nstd200human GRCh37 chr2: 166,794,869-166,794,869 , GRCh37 chr2: 166,803,689-166,803,689 , GRCh38.p12 chr2: 165,947,179-165,947,179 , GRCh38.p12 chr2: 165,938,359-165,938,359 TTC21B-AS1, TTC21B
    nsv5327227inversion1nstd204human GRCh37.p13 chr2: 151,300,232-168,612,803 , GRCh38.p13 chr2: 150,443,718-167,756,293 , RND3, 198 more genes
    nsv5203213copy number variation1nstd204human GRCh38.p13 chr2: 165,922,830-165,925,429 , GRCh37.p13 chr2: 166,779,340-166,781,939 TTC21B
    nsv5168654mobile element insertion1nstd203human GRCh38 chr2: 165,937,695-165,937,709 , GRCh37.p13 chr2: 166,794,205-166,794,219 TTC21B, TTC21B-AS1
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
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