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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5491066copy number variation1nstd206human GRCh38 chr8: 143,591,950-143,592,035 , GRCh37.p13 chr8: 144,674,120-144,674,205 EEF1D
    nsv5301183copy number variation1nstd204human GRCh38.p13 chr8: 143,160,494-143,803,360 , GRCh37.p13 chr8: 144,241,911-144,743,529 TIGD5, MAPK15, 36 more genes
    nsv5254948copy number variation1nstd204human GRCh38.p13 chr8: 143,167,001-143,860,200 , GRCh37.p13 chr8: 144,248,418-144,743,525 LOC105375798, LINC02990, 41 more genes
    nsv5250708copy number variation1nstd204human GRCh37.p13 chr8: 144,636,271-144,700,470 , GRCh38.p13 chr8: 143,554,101-143,618,300 EEF1D, GFUS, 6 more genes
    nsv4969159copy number variation1nstd200human GRCh38 chr8: 143,579,142-143,589,660 , GRCh37.p13 chr8: 144,661,312-144,671,830 EEF1D
    nsv4829370copy number variation1nstd200human GRCh37 chr8: 144,661,312-144,671,830 , GRCh38.p12 chr8: 143,579,142-143,589,660 , GRCh38.p12 chr8|NT_187571.1: 69,182-79,700 EEF1D
    nsv4729603copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 144,262,042-146,295,771 , GRCh38.p12 chr8: 143,180,625-145,070,385 CYC1, EEF1D, 112 more genes
    nsv4676049copy number variation1nstd102humanPathogenic GRCh37 chr8: 143,616,831-144,930,611 , GRCh38.p12 chr8: 142,535,470-143,848,439 PYCR3, MROH4P, 69 more genes
    nsv4675664copy number variation1nstd102humanPathogenic GRCh37 chr8: 128,877,995-146,295,771 , GRCh38.p12 chr8: 127,865,749-145,070,385 LOC105375789, LINC02990, 270 more genes
    nsv4675273copy number variation1nstd102humanPathogenic GRCh37 chr8: 121,042,467-146,295,771 , GRCh38.p12 chr8: 120,030,228-145,070,385 TOP1MT, SLA, 379 more genes
    nsv4675029copy number variation1nstd102humanPathogenic GRCh37 chr8: 142,132,678-145,569,441 , GRCh38.p12 chr8: 141,122,579-144,345,779 RHPN1-AS1, MIR6847, 117 more genes
    nsv4614573copy number variation1nstd183human GRCh37 chr8: 144,678,975-144,681,937 , GRCh38.p12 chr8: 143,596,805-143,599,767 , GRCh38.p12 chr8|NT_187571.1: 86,845-89,807 EEF1D, TIGD5
    nsv4605649copy number variation1nstd183human GRCh37 chr8: 144,676,151-144,681,106 , GRCh38.p12 chr8: 143,593,981-143,598,936 , GRCh38.p12 chr8|NT_187571.1: 84,021-88,976 TIGD5, EEF1D
    nsv4602710copy number variation2nstd183human GRCh37 chr8: 144,679,592-144,681,484 , GRCh38.p12 chr8: 143,597,422-143,599,314 , GRCh38.p12 chr8|NT_187571.1: 87,462-89,354 EEF1D, TIGD5
    nsv4599051copy number variation1nstd183human GRCh37 chr8: 144,659,970-144,660,143 , GRCh38.p12 chr8: 143,577,800-143,577,973 , GRCh38.p12 chr8|NT_187571.1: 67,840-68,013 EEF1D, NAPRT
    nsv4479986mobile element insertion1nstd166human GRCh37.p13 chr8: 144,666,254-144,666,254 , GRCh38.p12 chr8: 143,584,084-143,584,084 , GRCh38.p12 chr8|NT_187571.1: 74,124-74,124 EEF1D
    nsv4457078copy number variation1nstd102humanPathogenic GRCh37 chr8: 139,188,797-146,295,771 , GRCh38.p12 chr8: 138,176,554-145,070,385 GSDMD, MROH1, 181 more genes
    nsv4456997copy number variation1nstd102humanPathogenic GRCh37 chr8: 125,496,223-146,295,771 , GRCh38.p12 chr8: 124,483,982-145,070,385 LOC107986906, GPIHBP1, 317 more genes
    nsv4456811copy number variation1nstd102humanPathogenic GRCh37 chr8: 31,936,551-146,295,771 , GRCh38.p12 chr8: 32,079,035-145,070,385 TERF1, LOC107986945, 1511 more genes
    nsv4456783copy number variation1nstd102humanPathogenic GRCh37 chr8: 122,193,546-146,295,771 , GRCh38.p12 chr8: 121,181,306-145,070,385 HAS2, ZNF696, 369 more genes
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