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Items: 1 to 20 of 233

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5948253insertion1nstd209human GRCh38 chr1: 168,471,643-168,471,643 , GRCh37.p13 chr1: 168,440,881-168,440,881 LOC101928565
    nsv5623156insertion1nstd207human GRCh38 chr1: 168,472,088-168,472,088 , GRCh37.p13 chr1: 168,441,326-168,441,326 LOC101928565
    nsv5622178insertion1nstd207human GRCh38 chr1: 168,471,926-168,471,926 , GRCh37.p13 chr1: 168,441,164-168,441,164 LOC101928565
    nsv5615870insertion1nstd207human GRCh38 chr1: 168,472,176-168,472,176 , GRCh37.p13 chr1: 168,441,414-168,441,414 LOC101928565
    nsv5611303insertion1nstd207human GRCh38 chr1: 168,472,210-168,472,210 , GRCh37.p13 chr1: 168,441,448-168,441,448 LOC101928565
    nsv5604639insertion1nstd207human GRCh38 chr1: 168,471,966-168,471,966 , GRCh37.p13 chr1: 168,441,204-168,441,204 LOC101928565
    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
    nsv5354003translocation1nstd200human GRCh38 chr1: 168,493,935-168,493,935 , GRCh38 chr1: 168,494,060-168,494,060 , GRCh37.p13 chr1: 168,463,298-168,463,298 , GRCh37.p13 chr1: 168,463,173-168,463,173 LOC101928565
    nsv5204595copy number variation1nstd204human GRCh38.p13 chr1: 168,471,384-168,472,423 , GRCh37.p13 chr1: 168,440,622-168,441,661 LOC101928565
    nsv5204431copy number variation1nstd204human GRCh38.p13 chr1: 168,472,024-168,474,223 , GRCh37.p13 chr1: 168,441,262-168,443,461 LOC101928565
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4904007copy number variation1nstd200human GRCh38 chr1: 168,480,766-168,481,140 , GRCh37.p13 chr1: 168,450,004-168,450,378 LOC101928565
    nsv4897933copy number variation1nstd200human GRCh38 chr1: 168,463,989-168,464,069 , GRCh37.p13 chr1: 168,433,227-168,433,307 LOC101928565
    nsv4784609copy number variation1nstd200human GRCh37 chr1: 168,440,921-168,708,915 , GRCh38.p12 chr1: 168,471,683-168,739,677 DPT, XCL1, 5 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4767756insertion1nstd199human GRCh37 chr1: 168,440,873-168,440,873 , GRCh38.p12 chr1: 168,471,635-168,471,635 LOC101928565
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 more genes
    nsv4728484copy number variation1nstd102humanLikely benign GRCh37 chr1: 168,439,652-168,708,525 , GRCh38.p12 chr1: 168,470,414-168,739,287 DPT, XCL1, 5 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
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