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Items: 1 to 20 of 248

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5691179mobile element insertion1nstd211human GRCh38 chr1: 197,138,195-197,138,195 , GRCh37.p13 chr1: 197,107,325-197,107,325 SEPTIN14P12, ASPM
    nsv5673314copy number variation1nstd102humanPathogenic GRCh37 chr1: 196,918,585-197,742,062 , GRCh38.p12 chr1: 196,949,455-197,772,932 CFHR5, DENND1B, 11 more genes
    nsv5453217copy number variation1nstd206human GRCh38 chr1: 197,034,032-198,494,759 , GRCh37.p13 chr1: 197,003,162-198,463,889 MRPS21P3, PRR13P1, 14 more genes
    nsv5401343mobile element insertion1nstd206human GRCh38 chr1: 197,138,195-197,138,246 , GRCh37.p13 chr1: 197,107,325-197,107,376 ASPM, SEPTIN14P12
    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
    nsv5219439mobile element deletion1nstd204human GRCh38.p13 chr1: 197,131,531-197,131,885 , GRCh37.p13 chr1: 197,100,661-197,101,015 ASPM
    nsv5168924mobile element insertion1nstd203human GRCh38 chr1: 197,099,146-197,099,163 , GRCh37.p13 chr1: 197,068,276-197,068,293 ASPM
    nsv5078594mobile element insertion1nstd203human GRCh38 chr1: 197,112,647-197,112,663 , GRCh37.p13 chr1: 197,081,777-197,081,793 ASPM
    nsv5064969mobile element insertion1nstd203human GRCh38 chr1: 197,138,174-197,138,195 , GRCh37.p13 chr1: 197,107,304-197,107,325 SEPTIN14P12, ASPM
    nsv4774092mobile element deletion1nstd200human GRCh37 chr1: 197,100,690-197,100,987 , GRCh38.p12 chr1: 197,131,560-197,131,857 ASPM
    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
    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
    nsv4681287copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,053,444-197,447,595 , GRCh38.p12 chr1: 197,084,314-197,478,465 CRB1, LOC127011, 4 more genes
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4580072copy number variation1nstd183human GRCh37 chr1: 197,055,892-197,057,414 , GRCh38.p12 chr1: 197,086,762-197,088,284 ASPM
    nsv4452394copy number variation1nstd102humanUncertain significance GRCh37 chr1: 196,315,481-200,200,856 , GRCh38.p12 chr1: 196,346,351-200,231,728 LOC100420255, PEBP1P3, 50 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4068427copy number variation1nstd166human GRCh37.p13 chr1: 196,711,478-197,053,461 , GRCh38.p12 chr1: 196,742,348-197,084,331 LOC100996886, CFHR2, 8 more genes
    nsv4064665copy number variation1nstd166human GRCh37.p13 chr1: 197,107,747-197,109,835 , GRCh38.p12 chr1: 197,138,617-197,140,705 ASPM, SEPTIN14P12
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