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Items: 1 to 20 of 179

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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
    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
    nsv6693536copy number variation1nstd229human GRCh38 chr2: 200,857,387-200,876,361 , GRCh37.p13 chr2: 201,722,110-201,741,084 PPIL3, CLK1
    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
    nsv6548050inversion1nstd223human GRCh38 chr2: 200,886,697-200,887,090 , GRCh37.p13 chr2: 201,751,420-201,751,813 PPIL3
    nsv6547895inversion1nstd223human GRCh38 chr2: 200,880,141-200,880,449 , GRCh37.p13 chr2: 201,744,864-201,745,172 PPIL3, RNU6-312P
    nsv6351720copy number variation1nstd223human GRCh38 chr2: 200,857,386-200,876,361 , GRCh37.p13 chr2: 201,722,109-201,741,084 PPIL3, CLK1
    nsv6347315copy number variation1nstd223human GRCh38 chr2: 200,866,315-200,869,894 , GRCh37.p13 chr2: 201,731,038-201,734,617 PPIL3
    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
    nsv6276166insertion1nstd214human GRCh38 chr2: 200,869,962-200,869,962 , GRCh37.p13 chr2: 201,734,685-201,734,685 PPIL3
    nsv6139805copy number variation1nstd206human GRCh38 chr2: 200,869,962-200,870,018 , GRCh37.p13 chr2: 201,734,685-201,734,741 PPIL3
    nsv5987096copy number variation1nstd212human GRCh38 chr2: 200,870,159-200,870,267 , GRCh37.p13 chr2: 201,734,882-201,734,990 PPIL3
    nsv5606594insertion1nstd207human GRCh38 chr2: 200,869,962-200,869,962 , GRCh37.p13 chr2: 201,734,685-201,734,685 PPIL3
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