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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137191copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,957,148-6,553,454 , GRCh38.p12 chr1: 2,025,709-6,493,394 LOC102724429, TNFRSF14, 86 more genes
    nsv7137045copy number variation1nstd102humanPathogenic GRCh37 chr1: 536,777-6,012,896 , GRCh38.p12 chr1: 601,397-5,952,836 MIR200B, LOC105378608, 172 more genes
    nsv7099018copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-2,580,976 , GRCh38.p12 chr1: 10,001-2,649,537 DVL1, LOC100129534, 148 more genes
    nsv7098948copy number variation1nstd102humanUncertain significance GRCh38 chr1: 2,518,272-4,413,203 , GRCh37.p13 chr1: 2,449,711-4,473,263 LOC107984904, DFFB, 46 more genes
    nsv7058041inversion1nstd229human GRCh38 chr1: 1,845,355-9,534,096 , GRCh37.p13 chr1: 1,776,794-9,594,155 RPL37P9, TMEM52, 152 more genes
    nsv7051203inversion1nstd229human GRCh38 chr1: 2,476,867-3,696,891 , GRCh37.p13 chr1: 2,408,306-3,613,455 TP73, PRXL2B, 33 more genes
    nsv7044270inversion1nstd229human GRCh38 chr1: 1,133,718-2,842,494 , GRCh37.p13 chr1: 1,069,098-2,759,059 LOC105378586, MIR6726, 91 more genes
    nsv7039247inversion1nstd229human GRCh38 chr1: 2,372,052-2,638,855 , GRCh37.p13 chr1: 2,303,491-2,570,294 PEX10, MMEL1, 11 more genes
    nsv7039106inversion1nstd229human GRCh38 chr1: 2,557,035-2,816,554 , GRCh37.p13 chr1: 2,488,474-2,733,119 LOC105378600, MMEL1-AS1, 13 more genes
    nsv6647576copy number variation1nstd229human GRCh38 chr1: 2,416,301-2,560,400 , GRCh37.p13 chr1: 2,347,740-2,491,839 TNFRSF14-AS1, HES5, 3 more genes
    nsv6647395copy number variation1nstd229human GRCh38 chr1: 2,284,001-2,592,300 , GRCh37.p13 chr1: 2,215,440-2,523,739 TNFRSF14, SKI, 11 more genes
    nsv6647329copy number variation1nstd229human GRCh38 chr1: 2,529,601-2,592,300 , GRCh37.p13 chr1: 2,461,040-2,523,739 MMEL1, PRXL2B, 4 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6636408copy number variation1nstd102humanUncertain significance GRCh37 chr1: 2,194,087-4,738,355 , GRCh38.p12 chr1: 2,262,648-4,678,295 LINC01777, LOC105378606, 55 more genes
    nsv6636399copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,173,570-5,023,430 , GRCh38.p12 chr1: 2,242,131-4,963,370 LOC105378602, MORN1, 55 more genes
    nsv6636292copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-2,972,435 , GRCh38.p12 chr1: 914,087-3,055,871 LOC105378602, LOC105378599, 108 more genes
    nsv6626240copy number variation1nstd224human GRCh37 chr1: 2,494,330-2,541,268 , GRCh38.p12 chr1: 2,562,891-2,609,829 , GRCh38.p12 chr1|NT_187515.1: 114,081-161,019 MMEL1, LOC100996583, 2 more genes
    nsv6626239copy number variation1nstd224human GRCh37 chr1: 2,491,400-2,564,465 , GRCh38.p12 chr1: 2,559,961-2,633,026 , GRCh38.p12 chr1|NT_187515.1: 111,151-184,213 TNFRSF14, LOC100996583, 3 more genes
    nsv6315409copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-10,258,804 , GRCh38.p12 chr1: 914,086-10,198,746 VAMP3, CTNNBIP1, 245 more genes
    nsv6315371copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-2,518,608 , GRCh38.p12 chr1: 914,086-2,587,169 LINC01786, MMP23A, 96 more genes
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