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Items: 1 to 20 of 175

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5884364copy number variation1nstd209human GRCh38 chr1: 110,149,721-110,150,171 , GRCh37.p13 chr1: 110,692,343-110,692,793 SLC6A17
    nsv5683366mobile element insertion1nstd211human GRCh38 chr1: 110,175,019-110,175,019 , GRCh37.p13 chr1: 110,717,641-110,717,641 SLC6A17
    nsv5406369mobile element insertion1nstd206human GRCh38 chr1: 110,175,019-110,175,070 , GRCh37.p13 chr1: 110,717,641-110,717,692 SLC6A17
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5072780mobile element insertion1nstd203human GRCh38 chr1: 110,175,002-110,175,019 , GRCh37.p13 chr1: 110,717,624-110,717,641 SLC6A17
    nsv5060343mobile element insertion1nstd203human GRCh38 chr1: 110,175,003-110,175,019 , GRCh37.p13 chr1: 110,717,625-110,717,641 SLC6A17
    nsv4890740copy number variation1nstd200human GRCh38 chr1: 110,188,864-110,189,693 , GRCh37.p13 chr1: 110,731,486-110,732,315 SLC6A17
    nsv4890739copy number variation1nstd200human GRCh38 chr1: 110,156,179-110,160,513 , GRCh37.p13 chr1: 110,698,801-110,703,135 SLC6A17
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4579014copy number variation1nstd183human GRCh37 chr1: 110,698,045-110,706,723 , GRCh38.p12 chr1: 110,155,423-110,164,101 SLC6A17-AS1, SLC6A17
    nsv4458723mobile element insertion1nstd166human GRCh37.p13 chr1: 110,717,625-110,717,625 , GRCh38.p12 chr1: 110,175,003-110,175,003 SLC6A17
    nsv4458722mobile element insertion1nstd166human GRCh37.p13 chr1: 110,694,413-110,694,413 , GRCh38.p12 chr1: 110,151,791-110,151,791 SLC6A17
    nsv4453642copy number variation1nstd102humannot provided GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875 PSMA5, GSTM1, 79 more genes
    nsv4436700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583 ALX3, AMPD2, 89 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4072326copy number variation1nstd166human GRCh37.p13 chr1: 110,726,469-110,726,571 , GRCh38.p12 chr1: 110,183,847-110,183,949 SLC6A17
    nsv4069989copy number variation1nstd166human GRCh37.p13 chr1: 110,704,088-110,705,796 , GRCh38.p12 chr1: 110,161,466-110,163,174 SLC6A17
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