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Items: 1 to 20 of 939

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145494copy number variation1nstd232human GRCh37.p13 chr1: 2,367,786-2,367,840 , GRCh38.p12 chr1: 2,436,347-2,436,401 PLCH2
    nsv7142691copy number variation1nstd232human GRCh37.p13 chr1: 2,390,817-2,390,960 , GRCh38.p12 chr1: 2,459,378-2,459,521 , GRCh38.p12 chr1|NT_187515.1: 10,568-10,711 PLCH2
    nsv7138353copy number variation1nstd232human GRCh37.p13 chr1: 2,371,996-2,372,132 , GRCh38.p12 chr1: 2,440,557-2,440,693 PLCH2
    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
    nsv7099171copy number variation1nstd231human GRCh38.p12 chr1: 2,245,413-2,454,809 , GRCh37 chr1: 2,176,852-2,386,248 PEX10, SKI, 4 more genes
    nsv7099018copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-2,580,976 , GRCh38.p12 chr1: 10,001-2,649,537 DVL1, LOC100129534, 148 more genes
    nsv7096030copy number variation1nstd102humanUncertain significance GRCh37 chr1: 2,337,205-2,343,941 , GRCh38.p12 chr1: 2,405,766-2,412,502 RER1, PLCH2, 1 more genes
    nsv7095515copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,341,800-2,343,951 , GRCh38.p12 chr1: 2,410,361-2,412,512 PLCH2, PEX10
    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
    nsv7048199inversion1nstd229human GRCh38 chr1: 2,417,545-2,421,577 , GRCh37.p13 chr1: 2,348,984-2,353,016 PLCH2
    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
    nsv6647834copy number variation1nstd229human GRCh38 chr1: 2,478,457-2,533,607 , GRCh37.p13 chr1: 2,409,896-2,465,046 PLCH2, HES5, 1 more genes
    nsv6647821copy number variation1nstd229human GRCh38 chr1: 2,450,057-2,469,107 , GRCh37.p13 chr1: 2,381,496-2,400,546 PLCH2
    nsv6647752copy number variation1nstd229human GRCh38 chr1: 2,458,784-2,460,617 , GRCh37.p13 chr1: 2,390,223-2,392,056 PLCH2
    nsv6647747copy number variation1nstd229human GRCh38 chr1: 2,437,509-2,437,558 , GRCh37.p13 chr1: 2,368,948-2,368,997 PLCH2
    nsv6647740copy number variation1nstd229human GRCh38 chr1: 2,419,170-2,419,576 , GRCh37.p13 chr1: 2,350,609-2,351,015 PLCH2
    nsv6647736copy number variation1nstd229human GRCh38 chr1: 2,417,739-2,418,430 , GRCh37.p13 chr1: 2,349,178-2,349,869 PLCH2
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