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Items: 1 to 20 of 146

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5697770mobile element insertion2nstd211human GRCh38 chr20: 17,731,781-17,731,781 , GRCh37.p13 chr20: 17,712,426-17,712,426 BANF2
    nsv5557937sequence alteration1nstd206human GRCh38 chr20: 17,701,586-17,702,011 , GRCh37.p13 chr20: 17,682,231-17,682,656 BANF2
    nsv5545930insertion1nstd206human GRCh38 chr20: 17,701,998-17,701,998 , GRCh37.p13 chr20: 17,682,643-17,682,643 BANF2
    nsv5025172copy number variation1nstd200human GRCh38 chr20: 17,723,417-17,791,972 , GRCh37.p13 chr20: 17,704,062-17,772,617 BANF2
    nsv5025171copy number variation1nstd200human GRCh38 chr20: 17,697,143-17,725,644 , GRCh37.p13 chr20: 17,677,788-17,706,289 LOC105372547, BANF2
    nsv5021550copy number variation1nstd200human GRCh38 chr20: 17,717,788-17,718,010 , GRCh37.p13 chr20: 17,698,433-17,698,655 BANF2
    nsv5021549copy number variation1nstd200human GRCh38 chr20: 17,700,829-17,703,281 , GRCh37.p13 chr20: 17,681,474-17,683,926 BANF2
    nsv4865464copy number variation1nstd200human GRCh37 chr20: 17,704,062-17,772,617 , GRCh38.p12 chr20: 17,723,417-17,791,972 BANF2
    nsv4865463copy number variation1nstd200human GRCh37 chr20: 17,677,788-17,706,289 , GRCh38.p12 chr20: 17,697,143-17,725,644 LOC105372547, BANF2
    nsv4862217copy number variation1nstd200human GRCh37 chr20: 17,681,474-17,683,926 , GRCh38.p12 chr20: 17,700,829-17,703,281 BANF2
    nsv4676419copy number variation1nstd102humanPathogenic GRCh37 chr20: 8,571,696-22,088,650 , GRCh38.p12 chr20: 8,591,049-22,108,012 PGAM3P, EEF1A1P34, 182 more genes
    nsv4350090copy number variation1nstd102humanPathogenic GRCh37 chr20: 11,716,825-19,331,055 , GRCh38.p12 chr20: 11,736,177-19,350,411 ENSAP1, BANF2, 107 more genes
    nsv4349190copy number variation1nstd102humanPathogenic GRCh37 chr20: 61,568-26,305,479 , GRCh38.p12 chr20: 80,927-26,324,843 LOC105372582, LOC101929937, 473 more genes
    nsv4336704sequence alteration1nstd166human GRCh37.p13 chr20: 8,105,854-23,795,733 , GRCh38.p12 chr20: 8,125,207-23,815,096 , BFSP1, 242 more genes
    nsv4288144copy number variation1nstd166human GRCh37.p13 chr20: 17,675,281-17,676,016 , GRCh38.p12 chr20: 17,694,636-17,695,371 BANF2
    nsv4283108copy number variation1nstd166human GRCh37.p13 chr20: 17,714,814-17,714,934 , GRCh38.p12 chr20: 17,734,169-17,734,289 BANF2
    nsv3922272copy number variation1nstd102humanPathogenic GRCh38 chr20: 80,106-30,227,427 , NCBI36 chr20: 8,747-28,075,764 , GRCh37 chr20: 60,747-29,462,103 ISM1-AS1, CST2, 498 more genes
    nsv3921972copy number variation1nstd102humanPathogenic NCBI36 chr20: 18,580-19,074,923 , GRCh38 chr20: 89,939-19,146,279 , GRCh37 chr20: 70,580-19,126,923 PTMAP3, LOC105372517, 331 more genes
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
    nsv3919898copy number variation1nstd102humanPathogenic GRCh37 chr20: 61,568-26,305,479 , GRCh38 chr20: 80,927-26,324,843 , NCBI36 chr20: 9,568-26,253,479 MIR3192, CFAP61, 473 more genes
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