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Items: 1 to 20 of 214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148241copy number variation1nstd102humanPathogenic GRCh38 chr4: 79,123,548-99,457,773 , GRCh37.p13 chr4: 80,044,702-100,378,930 LOC105377327, LOC105377324, 214 more genes
    nsv7097260copy number variation1nstd102humanPathogenic GRCh37 chr4: 84,185,352-84,406,225 , GRCh38.p12 chr4: 83,264,199-83,485,072 HPSE, COQ2, 6 more genes
    nsv7054149inversion1nstd229human GRCh38 chr4: 79,216,923-83,461,355 , GRCh37.p13 chr4: 80,138,077-84,382,508 RNU6-615P, ANTXR2, 63 more genes
    nsv7046749inversion1nstd229human GRCh38 chr4: 83,257,967-83,302,135 , GRCh37.p13 chr4: 84,179,120-84,223,288 COQ2, HPSE
    nsv6752620copy number variation1nstd229human GRCh38 chr4: 82,981,801-83,434,800 , GRCh37.p13 chr4: 83,902,954-84,355,953 COPS4, HPSE, 8 more genes
    nsv6748141copy number variation1nstd229human GRCh38 chr4: 83,271,101-83,618,600 , GRCh37.p13 chr4: 84,192,254-84,539,753 HPSE, RPL30P5, 8 more genes
    nsv6738451copy number variation1nstd229human GRCh38 chr4: 83,264,601-83,266,500 , GRCh37.p13 chr4: 84,185,754-84,187,653 COQ2
    nsv6636962copy number variation1nstd102humanUncertain significance GRCh37 chr4: 84,142,481-84,840,424 , GRCh38.p12 chr4: 83,221,328-83,919,271 GPAT3, MRPS18C, 10 more genes
    nsv6634331copy number variation1nstd102humanPathogenic GRCh37 chr4: 84,048,377-84,744,105 , GRCh38.p12 chr4: 83,127,224-83,822,952 HPSE, SLC25A14P1, 10 more genes
    nsv6569666inversion1nstd223human GRCh38 chr4: 83,273,869-83,274,461 , GRCh37.p13 chr4: 84,195,022-84,195,614 COQ2
    nsv6561823inversion1nstd223human GRCh38 chr4: 83,265,436-83,265,788 , GRCh37.p13 chr4: 84,186,589-84,186,941 COQ2
    nsv6392621copy number variation1nstd223human GRCh38 chr4: 83,125,535-84,168,784 , GRCh37.p13 chr4: 84,046,688-85,089,937 LOC105377315, COQ2, 11 more genes
    nsv6390798copy number variation1nstd223human GRCh38 chr4: 83,279,001-83,287,200 , GRCh37.p13 chr4: 84,200,154-84,208,353 COQ2
    nsv6387138copy number variation1nstd223human GRCh38 chr4: 83,283,401-83,286,000 , GRCh37.p13 chr4: 84,204,554-84,207,153 COQ2
    nsv6385937copy number variation1nstd223human GRCh38 chr4: 83,284,401-83,284,800 , GRCh37.p13 chr4: 84,205,554-84,205,953 COQ2
    nsv6313848copy number variation1nstd102humanPathogenic GRCh37 chr4: 81,054,789-90,667,421 , GRCh38.p12 chr4: 80,133,635-89,746,270 RPL6P13, SNORD144, 136 more genes
    nsv6313510copy number variation1nstd102humanPathogenic GRCh37 chr4: 75,737,340-91,131,156 , GRCh38.p12 chr4: 74,812,130-90,210,005 HIGD1AP13, CXCL11, 240 more genes
    nsv6313484copy number variation1nstd102humanPathogenic GRCh37 chr4: 79,780,152-94,873,225 , GRCh38.p12 chr4: 78,858,998-93,952,074 LOC105377329, LOC107986294, 166 more genes
    nsv6313479copy number variation1nstd102humanUncertain significance GRCh37 chr4: 84,134,525-84,984,297 , GRCh38.p12 chr4: 83,213,372-84,063,144 COQ2, RPL30P5, 11 more genes
    nsv6291432copy number variation1nstd102humanPathogenic GRCh37 chr4: 52,866,944-143,582,507 , GRCh38.p12 chr4: 52,000,778-142,661,354 SNHG27, TNIP3, 1091 more genes
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