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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5960076insertion1nstd209human GRCh38 chr1: 209,827,668-209,827,668 , GRCh37.p13 chr1: 210,001,013-210,001,013 UTP25
    nsv5874367copy number variation1nstd209human GRCh38 chr1: 209,832,810-209,834,308 , GRCh37.p13 chr1: 210,006,155-210,007,653 UTP25
    nsv5829180copy number variation1nstd209human GRCh38 chr1: 209,832,856-209,834,055 , GRCh37.p13 chr1: 210,006,201-210,007,400 UTP25
    nsv5829179copy number variation1nstd209human GRCh38 chr1: 209,825,163-209,826,162 , GRCh37.p13 chr1: 209,998,508-209,999,507 UTP25
    nsv5679896mobile element insertion2nstd211human GRCh38 chr1: 209,827,681-209,827,681 , GRCh37.p13 chr1: 210,001,026-210,001,026 UTP25
    nsv5401921mobile element insertion1nstd206human GRCh38 chr1: 209,827,668-209,827,668 , GRCh37.p13 chr1: 210,001,013-210,001,013 UTP25
    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
    nsv5214804copy number variation1nstd204human GRCh38.p13 chr1: 209,834,656-209,835,755 , GRCh37.p13 chr1: 210,008,001-210,009,100 UTP25
    nsv5079124mobile element insertion1nstd203human GRCh38 chr1: 209,827,668-209,827,681 , GRCh37.p13 chr1: 210,001,013-210,001,026 UTP25
    nsv5063353mobile element insertion1nstd203human GRCh38 chr1: 209,857,819-209,857,832 , GRCh37.p13 chr1: 210,031,164-210,031,177 UTP25
    nsv5061125mobile element insertion1nstd203human GRCh38 chr1: 209,827,673-209,827,681 , GRCh37.p13 chr1: 210,001,018-210,001,026 UTP25
    nsv4774204copy number variation1nstd200human GRCh37 chr1: 210,006,157-210,007,654 , GRCh38.p12 chr1: 209,832,812-209,834,309 UTP25
    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
    nsv4728203copy number variation1nstd102humanUncertain significance GRCh37 chr1: 208,703,835-210,154,164 , GRCh38.p12 chr1: 208,530,490-209,980,819 ADORA2BP1, MIR4260, 29 more genes
    nsv4724237insertion1nstd186human GRCh37 chr1: 210,001,013-210,001,013 , GRCh38.p12 chr1: 209,827,668-209,827,668 UTP25
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4536366insertion1nstd166human GRCh37.p13 chr1: 210,001,013-210,001,013 , GRCh38.p12 chr1: 209,827,668-209,827,668 UTP25
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
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