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Items: 1 to 20 of 237

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7051329inversion1nstd229human GRCh38 chr2: 202,212,856-202,213,255 , GRCh37.p13 chr2: 203,077,579-203,077,978 SUMO1
    nsv7049459inversion1nstd229human GRCh38 chr2: 199,624,566-202,238,851 , GRCh37.p13 chr2: 200,489,289-203,103,574 LOC105373833, NDUFB3, 76 more genes
    nsv6697182copy number variation1nstd229human GRCh38 chr2: 192,562,889-202,434,958 , GRCh37.p13 chr2: 193,427,615-203,299,681 RNU6-915P, SLC44A3P1, 150 more genes
    nsv6692106copy number variation1nstd229human GRCh38 chr2: 202,096,601-202,470,300 , GRCh37.p13 chr2: 202,961,324-203,335,023 PSMA2P3, RPL39P14, 14 more genes
    nsv6690488copy number variation1nstd229human GRCh38 chr2: 202,225,306-202,226,892 , GRCh37.p13 chr2: 203,090,029-203,091,615 SUMO1
    nsv6689611copy number variation1nstd229human GRCh38 chr2: 202,227,101-202,232,885 , GRCh37.p13 chr2: 203,091,824-203,097,608 RPL39P14, SUMO1
    nsv6684261copy number variation1nstd229human GRCh38 chr2: 202,119,001-202,277,500 , GRCh37.p13 chr2: 202,983,724-203,142,223 DAZAP2P1, LOC100287425, 7 more genes
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6627808copy number variation1nstd224human GRCh37 chr2: 203,098,559-203,139,911 , GRCh38.p12 chr2: 202,233,836-202,275,188 SUMO1, LOC100287425, 2 more genes
    nsv6554307inversion1nstd223human GRCh38 chr2: 202,213,009-202,213,367 , GRCh37.p13 chr2: 203,077,732-203,078,090 SUMO1
    nsv6550936inversion1nstd223human GRCh38 chr2: 202,211,841-202,212,273 , GRCh37.p13 chr2: 203,076,564-203,076,996 SUMO1
    nsv6545866inversion1nstd223human GRCh38 chr2: 202,215,930-202,216,901 , GRCh37.p13 chr2: 203,080,653-203,081,624 SUMO1
    nsv6544291inversion1nstd223human GRCh38 chr2: 202,212,882-202,213,574 , GRCh37.p13 chr2: 203,077,605-203,078,297 SUMO1
    nsv6535779inversion1nstd223human GRCh38 chr2: 202,227,013-202,227,504 , GRCh37.p13 chr2: 203,091,736-203,092,227 SUMO1
    nsv6344295copy number variation1nstd223human GRCh38 chr2: 202,212,031-202,213,022 , GRCh37.p13 chr2: 203,076,754-203,077,745 SUMO1
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314380complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr8: 141,981,143-141,981,143 , GRCh38.p12 chr8: 141,981,144-141,981,144 , GRCh37 chr8: 143,062,504-143,062,504 , GRCh37 chr8: 143,062,505-143,062,505 , GRCh38.p12 chr2: 202,217,411-202,217,411 , GRCh38.p12 chr2: 202,217,420-202,217,420 , GRCh37 chr2: 203,082,134-203,082,134 , GRCh37 chr2: 203,082,143-203,082,143 SUMO1
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 RN7SKP200, PIMREGP1, 179 more genes
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