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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7077519inversion1nstd229human GRCh38 chr12: 86,495,718-92,133,299 , GRCh37.p13 chr12: 86,889,495-92,527,075 CEP290, MIR3059, 60 more genes
    nsv7060010inversion1nstd229human GRCh38 chr12: 86,085,575-91,207,469 , GRCh37.p13 chr12: 86,479,353-91,601,246 POC1B, C12orf50, 55 more genes
    nsv6937405copy number variation1nstd229human GRCh38 chr12: 87,957,217-88,286,316 , GRCh37.p13 chr12: 88,350,994-88,680,093 RNA5SP364, LOC107984542, 6 more genes
    nsv6932987copy number variation1nstd229human GRCh38 chr12: 87,925,501-88,494,507 , GRCh37.p13 chr12: 88,319,278-88,888,284 LOC107984542, RPS4XP15, 8 more genes
    nsv6931650copy number variation1nstd229human GRCh38 chr12: 88,048,244-88,058,235 , GRCh37.p13 chr12: 88,442,021-88,452,012 RNA5SP364, CEP290, 2 more genes
    nsv6929928copy number variation1nstd229human GRCh38 chr12: 87,978,901-88,153,800 , GRCh37.p13 chr12: 88,372,678-88,547,577 CEP290, C12orf50, 5 more genes
    nsv6928678copy number variation1nstd229human GRCh38 chr12: 88,027,812-88,118,908 , GRCh37.p13 chr12: 88,421,589-88,512,685 RLIG1, LOC100420011, 4 more genes
    nsv6927933copy number variation1nstd229human GRCh38 chr12: 88,006,989-88,039,033 , GRCh37.p13 chr12: 88,400,766-88,432,810 C12orf50, RLIG1, 1 more genes
    nsv6925267copy number variation1nstd229human GRCh38 chr12: 88,047,969-88,320,569 , GRCh37.p13 chr12: 88,441,746-88,714,346 RLIG1, RNA5SP364, 4 more genes
    nsv6923370copy number variation1nstd229human GRCh38 chr12: 88,046,581-88,058,105 , GRCh37.p13 chr12: 88,440,358-88,451,882 RLIG1, RNA5SP364, 2 more genes
    nsv6921705copy number variation1nstd229human GRCh38 chr12: 88,032,601-88,036,200 , GRCh37.p13 chr12: 88,426,378-88,429,977 RLIG1, LOC107984542
    nsv6473666copy number variation1nstd223human GRCh38 chr12: 88,047,302-88,047,768 , GRCh37.p13 chr12: 88,441,079-88,441,545 RLIG1, CEP290
    nsv6466059copy number variation1nstd223human GRCh38 chr12: 87,815,838-88,090,776 , GRCh37.p13 chr12: 88,209,615-88,484,553 GADD45AP1, CEP290, 6 more genes
    nsv6459101copy number variation1nstd223human GRCh38 chr12: 88,048,401-88,049,600 , GRCh37.p13 chr12: 88,442,178-88,443,377 CEP290, RLIG1
    nsv6314045copy number variation1nstd102humanUncertain significance GRCh37 chr12: 87,592,859-88,575,639 , GRCh38.p12 chr12: 87,199,082-88,181,862 LOC100420011, LOC107984542, 14 more genes
    nsv6309520copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,442,961-88,452,817 , GRCh38.p12 chr12: 88,049,184-88,059,040 CEP290, RLIG1, 2 more genes
    nsv6309488copy number variation1nstd102humanUncertain significance GRCh37 chr12: 88,442,961-89,919,672 , GRCh38.p12 chr12: 88,049,184-89,525,895 RLIG1, LOC105369886, 20 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132719copy number variation1nstd213human GRCh37 chr12: 87,560,000-88,490,001 , GRCh38.p12 chr12: 87,166,223-88,096,224 CYCSP30, LOC105369880, 15 more genes
    nsv6132715copy number variation1nstd213human GRCh37 chr12: 84,440,000-93,800,001 , GRCh38.p12 chr12: 84,046,221-93,406,225 , BTG1, 102 more genes
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