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Items: 1 to 20 of 164

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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
    nsv7054196inversion1nstd229human GRCh38 chr2: 203,378,155-204,935,447 , GRCh37.p13 chr2: 204,242,878-205,800,170 KRT18P39, NPM1P33, 14 more genes
    nsv7045070inversion1nstd229human GRCh38 chr2: 203,190,378-204,623,331 , GRCh37.p13 chr2: 204,055,101-205,488,054 CTLA4, ABI2, 20 more genes
    nsv6691436copy number variation1nstd229human GRCh38 chr2: 203,948,268-203,949,904 , GRCh37.p13 chr2: 204,812,991-204,814,627 ICOS
    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
    nsv6634309copy number variation1nstd102humanPathogenic GRCh37 chr2: 204,819,752-204,821,568 , GRCh38 chr2: 203,955,029-203,956,845 ICOS
    nsv6353882copy number variation1nstd223human GRCh38 chr2: 203,962,029-203,967,314 , GRCh37.p13 chr2: 204,826,752-204,832,037 ICOS
    nsv6342153copy number variation1nstd223human GRCh38 chr2: 203,954,901-203,957,300 , GRCh37.p13 chr2: 204,819,624-204,822,023 ICOS
    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
    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
    nsv6311631copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,420,070-211,811,277 , GRCh38.p12 chr2: 202,555,347-210,946,553 MIR3130-2, WDR12, 133 more genes
    nsv6311367copy number variation1nstd102humanUncertain significance GRCh37 chr2: 204,820,339-204,824,322 , GRCh38.p12 chr2: 203,955,616-203,959,599 ICOS
    nsv6311365copy number variation5nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 201,943,606-204,824,322 , GRCh38.p12 chr2: 201,078,883-203,959,599 MTND4LP17, SNORD11, 87 more genes
    nsv5903140copy number variation1nstd209human GRCh38 chr2: 203,948,266-203,949,903 , GRCh37.p13 chr2: 204,812,989-204,814,626 ICOS
    nsv5619284insertion1nstd207human GRCh38 chr2: 203,948,291-203,948,291 , GRCh37.p13 chr2: 204,813,014-204,813,014 ICOS
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5555448sequence alteration1nstd206human GRCh38 chr2: 203,948,268-203,948,291 , GRCh37.p13 chr2: 204,812,991-204,813,014 ICOS
    nsv5361193translocation1nstd200human GRCh38 chr2: 203,948,268-203,948,268 , GRCh38 chr2: 203,949,904-203,949,904 , GRCh37.p13 chr2: 204,814,627-204,814,627 , GRCh37.p13 chr2: 204,812,991-204,812,991 ICOS
    nsv5343831translocation1nstd200human GRCh37 chr2: 204,812,991-204,812,991 , GRCh37 chr2: 204,814,627-204,814,627 , GRCh38.p12 chr2: 203,948,268-203,948,268 , GRCh38.p12 chr2: 203,949,904-203,949,904 ICOS
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