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Items: 1 to 20 of 182

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5883316copy number variation1nstd209human GRCh38 chr1: 174,998,937-174,998,991 , GRCh37.p13 chr1: 174,968,074-174,968,128 LOC105371622, CACYBP
    nsv5727676mobile element insertion2nstd211human GRCh38 chr1: 174,997,599-174,997,599 , GRCh37.p13 chr1: 174,966,736-174,966,736 LOC105371622, CACYBP
    nsv5681030mobile element insertion2nstd211human GRCh38 chr1: 174,998,399-174,998,399 , GRCh37.p13 chr1: 174,967,536-174,967,536 LOC105371622, CACYBP
    nsv5609861insertion1nstd207human GRCh38 chr1: 174,997,584-174,997,584 , GRCh37.p13 chr1: 174,966,721-174,966,721 LOC105371622, CACYBP
    nsv5398427mobile element insertion1nstd206human GRCh38 chr1: 174,998,399-174,998,450 , GRCh37.p13 chr1: 174,967,536-174,967,587 LOC105371622, CACYBP
    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
    nsv5189796mobile element insertion1nstd203human GRCh38 chr1: 175,003,905-175,003,920 , GRCh37.p13 chr1: 174,973,041-174,973,056 CACYBP
    nsv5177104mobile element insertion1nstd203human GRCh38 chr1: 174,997,584-174,997,599 , GRCh37.p13 chr1: 174,966,721-174,966,736 LOC105371622, CACYBP
    nsv4904041copy number variation1nstd200human GRCh38 chr1: 174,996,461-175,514,710 , GRCh37.p13 chr1: 174,965,598-175,483,846 ENTR1P2, LOC105371623, 8 more genes
    nsv4784738copy number variation1nstd200human GRCh37 chr1: 174,971,168-174,972,514 , GRCh38.p12 chr1: 175,002,032-175,003,378 CACYBP
    nsv4781279copy number variation1nstd200human GRCh37 chr1: 174,965,598-175,483,846 , GRCh38.p12 chr1: 174,996,461-175,514,710 TNR, MRPS14, 8 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
    nsv4728270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,410,914-178,743,636 , GRCh38.p12 chr1: 174,441,776-178,774,501 LINC01741, MRPS14, 52 more genes
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4674280copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,974,791-177,024,710 , GRCh38.p12 chr1: 175,005,655-177,055,574 ENTR1P2, PTP4A1P7, 20 more genes
    nsv4594090copy number variation1nstd183human GRCh37 chr1: 174,938,265-174,978,865 , GRCh38.p12 chr1: 174,969,128-175,009,729 RNU6-307P, LOC105371622, 2 more genes
    nsv4573456mobile element insertion1nstd166human GRCh37.p13 chr1: 174,973,041-174,973,041 , GRCh38.p12 chr1: 175,003,905-175,003,905 CACYBP
    nsv4566170mobile element insertion1nstd166human GRCh37.p13 chr1: 174,966,721-174,966,721 , GRCh38.p12 chr1: 174,997,584-174,997,584 CACYBP, LOC105371622
    nsv4536362insertion1nstd166human GRCh37.p13 chr1: 174,972,425-174,972,425 , GRCh38.p12 chr1: 175,003,289-175,003,289 CACYBP
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