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Items: 1 to 20 of 158

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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
    nsv7056673inversion1nstd229human GRCh38 chr2: 200,789,164-201,081,461 , GRCh37.p13 chr2: 201,653,887-201,946,184 ORC2, CLK1, 17 more genes
    nsv7051353inversion1nstd229human GRCh38 chr2: 200,635,082-200,934,973 , GRCh37.p13 chr2: 201,499,805-201,799,696 NIF3L1, RNU6-312P, 15 more genes
    nsv7049459inversion1nstd229human GRCh38 chr2: 199,624,566-202,238,851 , GRCh37.p13 chr2: 200,489,289-203,103,574 LOC105373833, NDUFB3, 76 more genes
    nsv7047753inversion1nstd229human GRCh38 chr2: 200,893,972-200,897,604 , GRCh37.p13 chr2: 201,758,695-201,762,327 RNU6-762P, NIF3L1
    nsv7044131inversion1nstd229human GRCh38 chr2: 200,766,186-201,065,779 , GRCh37.p13 chr2: 201,630,909-201,930,502 AOX3P-AOX2P, HYCC2, 16 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
    nsv6689158copy number variation1nstd229human GRCh38 chr2: 200,899,054-200,907,170 , GRCh37.p13 chr2: 201,763,777-201,771,893 ORC2, NIF3L1, 1 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
    nsv6552996inversion1nstd223human GRCh38 chr2: 200,888,068-200,888,761 , GRCh37.p13 chr2: 201,752,791-201,753,484 PPIL3, NIF3L1
    nsv6548767inversion1nstd223human GRCh38 chr2: 200,893,898-200,894,402 , GRCh37.p13 chr2: 201,758,621-201,759,125 NIF3L1
    nsv6536847inversion1nstd223human GRCh38 chr2: 200,902,393-200,903,194 , GRCh37.p13 chr2: 201,767,116-201,767,917 NIF3L1
    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
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5366765translocation1nstd200human GRCh38 chr2: 200,893,049-200,893,049 , GRCh38 chr2: 200,901,554-200,901,554 , GRCh37.p13 chr2: 201,757,772-201,757,772 , GRCh37.p13 chr2: 201,766,277-201,766,277 NIF3L1
    nsv5344606translocation1nstd200human GRCh37 chr2: 201,766,277-201,766,277 , GRCh37 chr2: 201,757,772-201,757,772 , GRCh38.p12 chr2: 200,893,049-200,893,049 , GRCh38.p12 chr2: 200,901,554-200,901,554 NIF3L1
    nsv5063650mobile element insertion1nstd203human GRCh38 chr2: 200,893,130-200,893,146 , GRCh37.p13 chr2: 201,757,853-201,757,869 NIF3L1
    nsv4913821copy number variation1nstd200human GRCh38 chr2: 200,904,209-200,921,423 , GRCh37.p13 chr2: 201,768,932-201,786,146 ORC2, NIF3L1
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