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Items: 1 to 20 of 191

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5883027copy number variation1nstd209human GRCh38 chr1: 53,945,963-53,946,096 , GRCh37.p13 chr1: 54,411,636-54,411,769 LRRC42, IFT25
    nsv5722889mobile element insertion2nstd211human GRCh38 chr1: 53,935,467-53,935,467 , GRCh37.p13 chr1: 54,401,140-54,401,140 IFT25
    nsv5680433mobile element insertion2nstd211human GRCh38 chr1: 53,935,553-53,935,553 , GRCh37.p13 chr1: 54,401,226-54,401,226 IFT25
    nsv5397318mobile element insertion1nstd206human GRCh38 chr1: 53,935,467-53,935,534 , GRCh37.p13 chr1: 54,401,140-54,401,207 IFT25
    nsv5395029mobile element insertion1nstd206human GRCh38 chr1: 53,935,553-53,935,604 , GRCh37.p13 chr1: 54,401,226-54,401,277 IFT25
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5186005mobile element insertion1nstd203human GRCh38 chr1: 53,935,450-53,935,467 , GRCh37.p13 chr1: 54,401,123-54,401,140 IFT25
    nsv5185839mobile element insertion1nstd203human GRCh38 chr1: 53,935,553-53,935,553 , GRCh37.p13 chr1: 54,401,226-54,401,226 IFT25
    nsv5079973mobile element insertion1nstd203human GRCh38 chr1: 53,935,537-53,935,553 , GRCh37.p13 chr1: 54,401,210-54,401,226 IFT25
    nsv5062719mobile element insertion1nstd203human GRCh38 chr1: 53,928,204-53,928,218 , GRCh37.p13 chr1: 54,393,877-54,393,891 IFT25
    nsv5061644mobile element insertion1nstd203human GRCh38 chr1: 53,935,534-53,935,553 , GRCh37.p13 chr1: 54,401,207-54,401,226 IFT25
    nsv4890232copy number variation1nstd200human GRCh38 chr1: 53,936,174-53,936,369 , GRCh37.p13 chr1: 54,401,847-54,402,042 IFT25
    nsv4890231copy number variation1nstd200human GRCh38 chr1: 53,912,439-53,983,613 , GRCh37.p13 chr1: 54,378,112-54,449,286 HNRNPA3P12, LRRC42, 1 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783282copy number variation1nstd200human GRCh37 chr1: 54,378,112-54,449,286 , GRCh38.p12 chr1: 53,912,439-53,983,613 HNRNPA3P12, IFT25, 1 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    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
    nsv4581873copy number variation1nstd183human GRCh37 chr1: 54,004,078-54,571,989 , GRCh38.p12 chr1: 53,538,405-54,106,316 NDC1, COX7BP3, 12 more genes
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