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Items: 1 to 20 of 222

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5887061copy number variation1nstd209human GRCh38 chr1: 227,749,750-227,749,818 , GRCh37.p13 chr1: 227,937,451-227,937,519 SNAP47
    nsv5873862copy number variation1nstd209human GRCh38 chr1: 227,740,933-227,741,054 , GRCh37.p13 chr1: 227,928,634-227,928,755 SNAP47
    nsv5584059copy number variation1nstd207human GRCh38 chr1: 227,749,750-227,749,818 , GRCh37.p13 chr1: 227,937,451-227,937,519 SNAP47
    nsv5570804copy number variation1nstd207human GRCh38 chr1: 227,740,933-227,741,054 , GRCh37.p13 chr1: 227,928,634-227,928,755 SNAP47
    nsv5547252insertion1nstd206human GRCh38 chr1: 227,767,174-227,767,223 , GRCh37.p13 chr1: 227,954,875-227,954,924 SNAP47
    nsv5453831copy number variation1nstd206human GRCh38 chr1: 227,778,388-227,778,446 , GRCh37.p13 chr1: 227,966,089-227,966,147 SNAP47
    nsv5450031copy number variation1nstd206human GRCh38 chr1: 227,740,862-227,741,026 , GRCh37.p13 chr1: 227,928,563-227,928,727 SNAP47
    nsv5445556copy number variation1nstd206human GRCh38 chr1: 227,740,866-227,741,087 , GRCh37.p13 chr1: 227,928,567-227,928,788 SNAP47
    nsv5445162copy number variation1nstd206human GRCh38 chr1: 227,749,760-227,749,819 , GRCh37.p13 chr1: 227,937,461-227,937,520 SNAP47
    nsv5440977copy number variation1nstd206human GRCh38 chr1: 227,740,957-227,741,021 , GRCh37.p13 chr1: 227,928,658-227,928,722 SNAP47
    nsv5438209copy number variation1nstd206human GRCh38 chr1: 227,767,445-227,767,633 , GRCh37.p13 chr1: 227,955,146-227,955,334 SNAP47
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5355774translocation1nstd200human GRCh38 chr1: 227,749,760-227,749,760 , GRCh38 chr1: 227,749,819-227,749,819 , GRCh37.p13 chr1: 227,937,461-227,937,461 , GRCh37.p13 chr1: 227,937,520-227,937,520 SNAP47
    nsv5175844mobile element insertion1nstd203human GRCh38 chr1: 227,772,964-227,772,978 , GRCh37.p13 chr1: 227,960,665-227,960,679 SNAP47
    nsv4899113copy number variation1nstd200human GRCh38 chr1: 227,754,936-227,758,518 , GRCh37.p13 chr1: 227,942,637-227,946,219 SNAP47
    nsv4899112copy number variation1nstd200human GRCh38 chr1: 227,730,560-227,731,287 , GRCh37.p13 chr1: 227,918,261-227,918,988 SNAP47, JMJD4
    nsv4899108copy number variation1nstd200human GRCh38 chr1: 227,662,731-227,731,907 , GRCh37.p13 chr1: 227,850,432-227,919,608 ZNF847P, ZNF678, 2 more genes
    nsv4774679copy number variation1nstd200human GRCh37 chr1: 227,850,432-227,919,608 , GRCh38.p12 chr1: 227,662,731-227,731,907 ZNF678, SNAP47, 2 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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