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Items: 1 to 20 of 325

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5940490copy number variation1nstd209human GRCh38 chr19: 800,923-800,975 , GRCh37.p13 chr19: 800,923-800,975 PTBP1
    nsv5521400copy number variation1nstd206human GRCh38 chr19: 737,471-844,853 , GRCh37.p13 chr19: 737,471-844,853 PTBP1, PALM, 8 more genes
    nsv5516340copy number variation1nstd206human GRCh38 chr19: 797,885-798,819 , GRCh37.p13 chr19: 797,885-798,819 PTBP1
    nsv5359357translocation1nstd200human GRCh38 chr19: 803,082-803,082 , GRCh38 chr19: 802,977-802,977 , GRCh37.p13 chr19: 802,977-802,977 , GRCh37.p13 chr19: 803,082-803,082 PTBP1, MIR4745
    nsv5327588copy number variation1nstd204human GRCh38.p13 chr19: 502,284-1,164,314 , GRCh37.p13 chr19: 502,284-1,164,313 RPS2P52, PRSS57, 44 more genes
    nsv5285258copy number variation1nstd204human GRCh38.p13 chr19: 667,301-878,200 , GRCh37.p13 chr19: 667,301-878,200 FSTL3, ELANE, 14 more genes
    nsv5029164copy number variation1nstd200human GRCh38 chr19: 502,290-1,164,305 , GRCh37.p13 chr19: 502,290-1,164,304 LOC105372235, RNU6-2, 44 more genes
    nsv4854867copy number variation1nstd200human GRCh37 chr19: 502,290-1,164,304 , GRCh38.p12 chr19: 502,290-1,164,305 LOC100420586, BSG, 44 more genes
    nsv4683365copy number variation1nstd102humanUncertain significance GRCh37 chr19: 589,926-1,401,495 , GRCh38.p12 chr19: 589,926-1,401,496 MISP, STK11, 56 more genes
    nsv4676346copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,911-3,501,271 , GRCh38.p12 chr19: 260,911-3,501,273 AZU1, REEP6, 159 more genes
    nsv4676189copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-4,384,674 , GRCh38.p12 chr19: 260,912-4,384,677 MRPL54, DAZAP1, 198 more genes
    nsv4633763copy number variation1nstd183human GRCh37 chr19: 811,335-812,583 , GRCh38.p12 chr19: 811,335-812,583 MIR3187, PTBP1, 1 more genes
    nsv4627063copy number variation1nstd183human GRCh37 chr19: 812,071-812,614 , GRCh38.p12 chr19: 812,071-812,614 PTBP1, PLPPR3, 1 more genes
    nsv4550618insertion1nstd166human GRCh37.p13 chr19: 797,933-797,933 , GRCh38.p12 chr19: 797,933-797,933 PTBP1
    nsv4532385copy number variation1nstd166human GRCh37.p13 chr19: 799,997-800,485 , GRCh38.p12 chr19: 799,997-800,485 PTBP1
    nsv4531012copy number variation1nstd166human GRCh37.p13 chr19: 800,926-800,976 , GRCh38.p12 chr19: 800,926-800,976 PTBP1
    nsv4502342mobile element insertion1nstd166human GRCh37.p13 chr19: 811,635-811,635 , GRCh38.p12 chr19: 811,635-811,635 PTBP1, PLPPR3, 1 more genes
    nsv4457776copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,911-4,788,357 , GRCh38.p12 chr19: 260,911-4,788,345 BSG, LOC100420586, 217 more genes
    nsv4420020copy number variation1nstd174human GRCh37 chr19: 794,878-815,173 , GRCh38.p12 chr19: 794,878-815,173 PTBP1, PLPPR3, 2 more genes
    nsv4270630copy number variation1nstd166human GRCh37.p13 chr19: 723,480-804,663 , GRCh38.p12 chr19: 723,480-804,663 PALM, PTBP1, 4 more genes
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