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Items: 1 to 20 of 154

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5926052copy number variation1nstd209human GRCh38 chr7: 130,164,421-130,164,476 , GRCh37.p13 chr7: 129,804,261-129,804,316 TMEM209
    nsv5556846sequence alteration1nstd206human GRCh38 chr7: 2,511,247-157,318,976 , GRCh37.p13 chr7: 2,550,881-157,111,670 , AHR, 2675 more genes
    nsv5493049copy number variation1nstd206human GRCh38 chr7: 130,200,132-130,200,287 , GRCh37.p13 chr7: 129,839,972-129,840,127 TMEM209
    nsv5473967copy number variation1nstd206human GRCh38 chr7: 130,172,129-130,172,308 , GRCh37.p13 chr7: 129,811,969-129,812,148 TMEM209
    nsv5371210translocation1nstd200human GRCh38 chr7: 130,200,152-130,200,152 , GRCh38 chr7: 130,200,267-130,200,267 , GRCh37.p13 chr7: 129,839,992-129,839,992 , GRCh37.p13 chr7: 129,840,107-129,840,107 TMEM209
    nsv5326600inversion1nstd204human GRCh37.p13 chr7: 97,320,865-141,491,704 , GRCh38.p13 chr7: 97,691,553-141,791,904 , ARF5, 752 more genes
    nsv5039775inversion1nstd200human GRCh38 chr7: 22,938,090-134,148,361 , GRCh37.p13 chr7: 22,977,709-133,833,114 , NFE4, 1832 more genes
    nsv5029742inversion1nstd200human GRCh38 chr7: 79,688,546-147,673,588 , GRCh37.p13 chr7: 79,317,862-147,370,680 , LOC100533722, 1168 more genes
    nsv4968759copy number variation1nstd200human GRCh38 chr7: 130,180,385-130,204,533 , GRCh37.p13 chr7: 129,820,225-129,844,373 TMEM209, SSMEM1
    nsv4968758copy number variation1nstd200human GRCh38 chr7: 130,162,757-130,162,984 , GRCh37.p13 chr7: 129,802,597-129,802,824 TMEM209
    nsv4880762inversion1nstd200human GRCh37 chr7: 79,317,862-147,370,680 , GRCh38.p12 chr7: 79,688,546-147,673,588 , RN7SKP277, 1168 more genes
    nsv4820559copy number variation1nstd200human GRCh37 chr7: 129,839,992-129,840,107 , GRCh38.p12 chr7: 130,200,152-130,200,267 TMEM209
    nsv4729643copy number variation1nstd102humanUncertain significance GRCh37 chr7: 129,605,827-133,093,756 , GRCh38.p12 chr7: 129,965,987-133,409,002 LOC100506937, CPA1, 57 more genes
    nsv4675620copy number variation1nstd102humanPathogenic GRCh37 chr7: 109,251,060-159,119,707 , GRCh38.p12 chr7: 109,611,003-159,327,017 RPL26P23, ST13P17, 887 more genes
    nsv4568905mobile element insertion1nstd166human GRCh37.p13 chr7: 129,809,936-129,809,936 , GRCh38.p12 chr7: 130,170,096-130,170,096 TMEM209
    nsv4568546mobile element insertion1nstd166human GRCh37.p13 chr7: 129,819,258-129,819,258 , GRCh38.p12 chr7: 130,179,418-130,179,418 TMEM209
    nsv4455091copy number variation1nstd102humanPathogenic GRCh37 chr7: 10,365-159,119,707 , GRCh38.p12 chr7: 10,365-159,327,017 RPL23AP51, FLJ40288, 2684 more genes
    nsv4436127complex substitution1nstd102humanLikely pathogenic GRCh37 chr7: 129,367,205-140,482,957 , GRCh38.p12 chr7: 129,727,365-140,783,157 AKR1B1, BPGM, 187 more genes
    nsv4349183copy number variation1nstd102humanPathogenic GRCh37 chr7: 128,312,450-159,119,220 , GRCh38.p12 chr7: 128,672,396-159,326,530 LOC105375582, TRBJ2-4, 686 more genes
    nsv4322564inversion1nstd166human GRCh37.p13 chr7: 125,283,973-130,824,546 , GRCh38.p12 chr7: 125,643,919-131,139,787 , ARF5, 119 more genes
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