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Items: 1 to 20 of 121

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5929552copy number variation1nstd209human GRCh38 chr20: 9,516,686-9,518,764 , GRCh37.p13 chr20: 9,497,333-9,499,411 LAMP5
    nsv5885836copy number variation1nstd209human GRCh38 chr20: 9,516,717-9,518,816 , GRCh37.p13 chr20: 9,497,364-9,499,463 LAMP5
    nsv5516379copy number variation1nstd206human GRCh38 chr20: 9,523,498-9,524,555 , GRCh37.p13 chr20: 9,504,145-9,505,202 LAMP5
    nsv5012488copy number variation1nstd200human GRCh38 chr20: 9,517,086-9,518,111 , GRCh37.p13 chr20: 9,497,733-9,498,758 LAMP5
    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
    nsv4676256copy number variation1nstd102humanUncertain significance GRCh37 chr20: 9,017,816-9,752,893 , GRCh38.p12 chr20: 9,037,169-9,772,245 LAMP5-AS1, PAK5, 4 more genes
    nsv4502965mobile element insertion1nstd166human GRCh37.p13 chr20: 9,497,753-9,497,753 , GRCh38.p12 chr20: 9,517,106-9,517,106 LAMP5
    nsv4392460copy number variation1nstd171human GRCh37 chr20: 9,497,334-9,499,412 , GRCh38.p12 chr20: 9,516,687-9,518,765 LAMP5
    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
    nsv4279901copy number variation1nstd166human GRCh37.p13 chr20: 9,497,337-9,499,412 , GRCh38.p12 chr20: 9,516,690-9,518,765 LAMP5
    nsv3929948insertion1nstd167human GRCh37 chr20: 9,498,268-9,498,268 , GRCh38.p12 chr20: 9,517,621-9,517,621 LAMP5
    nsv3923490copy number variation1nstd102humanPathogenic GRCh38 chr20: 80,106-13,029,401 , NCBI36 chr20: 8,747-12,958,049 , GRCh37 chr20: 60,747-13,010,049 LINC01751, RNA5SP474, 238 more genes
    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
    nsv3920089copy number variation1nstd102humanPathogenic GRCh38 chr20: 6,617,695-13,392,559 , NCBI36 chr20: 6,546,342-13,321,206 , GRCh37 chr20: 6,598,342-13,373,206 RN7SKP111, LOC105372517, 68 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
    nsv3917353copy number variation1nstd102humanUncertain significance GRCh38 chr20: 9,290,612-14,648,536 , NCBI36 chr20: 9,219,259-14,577,182 , GRCh37 chr20: 9,271,259-14,629,182 LOC107985384, LOC107985407, 63 more genes
    nsv3914413copy number variation1nstd102humanPathogenic NCBI36 chr20: 18,580-19,000,139 , GRCh38 chr20: 89,939-19,071,495 , GRCh37 chr20: 70,580-19,052,139 ZNF343, C20orf96, 331 more genes
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