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Items: 1 to 20 of 182

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5709277mobile element insertion2nstd211human GRCh38 chr17: 55,393,985-55,393,985 , GRCh37.p13 chr17: 53,471,346-53,471,346 MMD
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5533760copy number variation1nstd206human GRCh38 chr17: 55,407,449-55,407,509 , GRCh37.p13 chr17: 53,484,810-53,484,870 MMD
    nsv5529141copy number variation1nstd206human GRCh38 chr17: 55,396,760-55,397,264 , GRCh37.p13 chr17: 53,474,121-53,474,625 MMD
    nsv5424055mobile element insertion1nstd206human GRCh38 chr17: 55,393,985-55,394,036 , GRCh37.p13 chr17: 53,471,346-53,471,397 MMD
    nsv5153506mobile element insertion1nstd203human GRCh38 chr17: 55,393,970-55,393,985 , GRCh37.p13 chr17: 53,471,331-53,471,346 MMD
    nsv5026560copy number variation1nstd200human GRCh38 chr17: 55,409,949-55,412,025 , GRCh37.p13 chr17: 53,487,310-53,489,386 MMD
    nsv5026559copy number variation1nstd200human GRCh38 chr17: 55,399,324-55,409,668 , GRCh37.p13 chr17: 53,476,685-53,487,029 MMD
    nsv4571000sequence alteration1nstd166human GRCh37.p13 chr17: 53,490,674-53,492,255 , GRCh38.p12 chr17: 55,413,313-55,414,894 MMD
    nsv4566133mobile element insertion1nstd166human GRCh37.p13 chr17: 53,470,007-53,470,007 , GRCh38.p12 chr17: 55,392,646-55,392,646 MMD
    nsv4501694mobile element insertion1nstd166human GRCh37.p13 chr17: 53,471,331-53,471,331 , GRCh38.p12 chr17: 55,393,970-55,393,970 MMD
    nsv4421329copy number variation1nstd174human GRCh37 chr17: 53,474,046-53,474,611 , GRCh38.p12 chr17: 55,396,685-55,397,250 MMD
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4253123copy number variation1nstd166human GRCh37.p13 chr17: 53,482,994-53,483,054 , GRCh38.p12 chr17: 55,405,633-55,405,693 MMD
    nsv3960179copy number variation1nstd168human GRCh38 chr17: 55,377,848-55,420,200 , GRCh37.p13 chr17: 53,455,209-53,497,561 MMD
    nsv3920880copy number variation1nstd102humanPathogenic GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970 LOC107984983, LOC102724732, 85 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3911563copy number variation1nstd102humanPathogenic NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214 PLEKHH3, CHCT1, 958 more genes
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