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Items: 1 to 20 of 180

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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
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv7051514inversion1nstd229human GRCh38 chr2: 189,746,868-189,758,553 , GRCh37.p13 chr2: 190,611,594-190,623,279 OSGEPL1, ANKAR
    nsv6697964copy number variation1nstd229human GRCh38 chr2: 189,606,301-189,745,800 , GRCh37.p13 chr2: 190,471,027-190,610,526 ASNSD1, ASDURF, 3 more genes
    nsv6680798copy number variation1nstd229human GRCh38 chr2: 189,752,801-189,765,900 , GRCh37.p13 chr2: 190,617,527-190,630,626 ORMDL1, ANKAR, 2 more genes
    nsv6678780copy number variation1nstd229human GRCh38 chr2: 189,761,132-189,762,790 , GRCh37.p13 chr2: 190,625,858-190,627,516 ORMDL1, ANKAR, 2 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
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6627743copy number variation1nstd224human GRCh37 chr2: 190,521,054-191,071,369 , GRCh38.p12 chr2: 189,656,328-190,206,643 MSTN, LOC100421409, 14 more genes
    nsv6555017inversion1nstd223human GRCh38 chr2: 189,751,504-189,752,079 , GRCh37.p13 chr2: 190,616,230-190,616,805 ANKAR, OSGEPL1
    nsv6340283copy number variation1nstd223human GRCh38 chr2: 189,755,601-189,762,300 , GRCh37.p13 chr2: 190,620,327-190,627,026 OSGEPL1, OSGEPL1-AS1, 2 more genes
    nsv6335905copy number variation1nstd223human GRCh38 chr2: 189,749,169-189,749,996 , GRCh37.p13 chr2: 190,613,895-190,614,722 ANKAR, OSGEPL1
    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
    nsv6279256insertion1nstd214human GRCh38 chr2: 189,745,018-189,745,018 , GRCh37.p13 chr2: 190,609,744-190,609,744 ANKAR, OSGEPL1
    nsv6253128mobile element insertion1nstd215human GRCh38 chr2: 189,761,141-189,761,141 , GRCh37.p13 chr2: 190,625,867-190,625,867 OSGEPL1, ANKAR, 1 more genes
    nsv6253127mobile element insertion1nstd215human GRCh38 chr2: 189,745,029-189,745,029 , GRCh37.p13 chr2: 190,609,755-190,609,755 ANKAR, OSGEPL1
    nsv6134442copy number variation1nstd213human GRCh37 chr2: 190,270,000-190,610,001 , GRCh38.p12 chr2: 189,405,274-189,745,275 SLC40A1, ASNSD1, 6 more genes
    nsv5987203copy number variation1nstd212human GRCh38 chr2: 189,748,790-189,756,997 , GRCh37.p13 chr2: 190,613,516-190,621,723 ANKAR, OSGEPL1
    nsv5693220mobile element insertion1nstd211human GRCh38 chr2: 189,761,141-189,761,141 , GRCh37.p13 chr2: 190,625,867-190,625,867 OSGEPL1, ANKAR, 1 more genes
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