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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096514copy number variation1nstd102humanUncertain significance GRCh37 chr2: 48,914,836-50,850,773 , GRCh38.p12 chr2: 48,687,697-50,623,635 STON1-GTF2A1L, LOC105374594, 12 more genes
    nsv7056111inversion1nstd229human GRCh38 chr2: 48,697,143-51,252,169 , GRCh37.p13 chr2: 48,924,282-51,479,307 CTBP2P5, RPL7P13, 14 more genes
    nsv7050707inversion1nstd229human GRCh38 chr2: 49,559,122-58,358,849 , GRCh37.p13 chr2: 49,786,260-58,585,984 CDPF1P1, MIR3682, 86 more genes
    nsv7040171inversion1nstd229human GRCh38 chr2: 49,621,257-50,711,622 , GRCh37.p13 chr2: 49,848,395-50,938,760 NRXN1, MTCO1P42, 3 more genes
    nsv7039926inversion1nstd229human GRCh38 chr2: 48,695,057-51,245,004 , GRCh37.p13 chr2: 48,922,196-51,472,142 NRXN1-DT, MTCO1P42, 14 more genes
    nsv6675114copy number variation1nstd229human GRCh38 chr2: 49,870,836-49,882,816 , GRCh37.p13 chr2: 50,097,974-50,109,954 RPL7P13
    nsv6674790copy number variation1nstd229human GRCh38 chr2: 49,860,601-49,879,800 , GRCh37.p13 chr2: 50,087,739-50,106,938 RPL7P13
    nsv6666071copy number variation1nstd229human GRCh38 chr2: 49,748,456-49,890,835 , GRCh37.p13 chr2: 49,975,594-50,117,973 RPL7P13
    nsv6664549copy number variation1nstd229human GRCh38 chr2: 49,875,025-49,880,012 , GRCh37.p13 chr2: 50,102,163-50,107,150 RPL7P13
    nsv6663302copy number variation1nstd229human GRCh38 chr2: 49,866,943-49,907,507 , GRCh37.p13 chr2: 50,094,081-50,134,645 RPL7P13
    nsv6658957copy number variation1nstd229human GRCh38 chr2: 49,802,499-49,910,861 , GRCh37.p13 chr2: 50,029,637-50,137,999 RPL7P13
    nsv6658777copy number variation1nstd229human GRCh38 chr2: 49,878,443-49,917,505 , GRCh37.p13 chr2: 50,105,581-50,144,643 RPL7P13, NRXN1
    nsv6658709copy number variation1nstd229human GRCh38 chr2: 49,064,087-51,354,679 , GRCh37.p13 chr2: 49,291,226-51,581,817 NRXN1, LOC105374595, 9 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6542417inversion1nstd223human GRCh38 chr2: 49,879,594-49,880,350 , GRCh37.p13 chr2: 50,106,732-50,107,488 RPL7P13
    nsv6344047copy number variation1nstd223human GRCh38 chr2: 49,748,450-49,890,828 , GRCh37.p13 chr2: 49,975,588-50,117,966 RPL7P13
    nsv6340329copy number variation1nstd223human GRCh38 chr2: 49,866,938-49,907,504 , GRCh37.p13 chr2: 50,094,076-50,134,642 RPL7P13
    nsv6337842copy number variation1nstd223human GRCh38 chr2: 49,876,596-49,881,954 , GRCh37.p13 chr2: 50,103,734-50,109,092 RPL7P13
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
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