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Items: 1 to 20 of 289

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137585copy number variation1nstd232human GRCh37.p13 chr2: 119,744,209-119,744,294 , GRCh38.p12 chr2: 118,986,633-118,986,718 MARCO
    nsv7050777inversion1nstd229human GRCh38 chr2: 117,420,323-122,585,255 , GRCh37.p13 chr2: 118,177,899-123,342,831 LOC105373578, RPL17P15, 65 more genes
    nsv7044064inversion1nstd229human GRCh38 chr2: 112,019,946-120,004,832 , GRCh37.p13 chr2: 112,777,523-120,762,408 LOC105373563, IL1A, 112 more genes
    nsv7043433inversion1nstd229human GRCh38 chr2: 118,974,178-118,990,799 , GRCh37.p13 chr2: 119,731,754-119,748,375 MARCO
    nsv6696102copy number variation1nstd229human GRCh38 chr2: 118,956,412-118,956,548 , GRCh37.p13 chr2: 119,713,988-119,714,124 MARCO
    nsv6691860copy number variation1nstd229human GRCh38 chr2: 118,902,401-118,958,400 , GRCh37.p13 chr2: 119,659,977-119,715,976 MARCO
    nsv6688972copy number variation1nstd229human GRCh38 chr2: 118,902,301-118,960,800 , GRCh37.p13 chr2: 119,659,877-119,718,376 MARCO
    nsv6684884copy number variation1nstd229human GRCh38 chr2: 118,940,871-118,965,879 , GRCh37.p13 chr2: 119,698,447-119,723,455 MARCO
    nsv6682933copy number variation1nstd229human GRCh38 chr2: 118,986,502-118,988,773 , GRCh37.p13 chr2: 119,744,078-119,746,349 MARCO
    nsv6636871copy number variation1nstd102humanPathogenic GRCh37 chr2: 116,761,476-123,897,262 , GRCh38.p12 chr2: 116,003,900-123,139,686 LOC105373578, RPL17P15, 78 more genes
    nsv6627315copy number variation1nstd224human GRCh37 chr2: 119,718,028-119,771,017 , GRCh38.p12 chr2: 118,960,452-119,013,441 MARCO
    nsv6553311inversion1nstd223human GRCh38 chr2: 113,382,126-121,687,299 , GRCh37.p13 chr2: 114,139,703-122,444,875 RPSAP23, CCDC93, 98 more genes
    nsv6352878copy number variation1nstd223human GRCh38 chr2: 118,940,919-118,965,897 , GRCh37.p13 chr2: 119,698,495-119,723,473 MARCO
    nsv6348881copy number variation1nstd223human GRCh38 chr2: 118,986,856-118,988,185 , GRCh37.p13 chr2: 119,744,432-119,745,761 MARCO
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 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
    nsv6313770copy number variation1nstd102humanPathogenic GRCh37 chr2: 113,188,197-128,144,700 , GRCh38.p12 chr2: 112,430,620-127,387,124 LOC105373575, RPS20P11, 174 more genes
    nsv6291375copy number variation1nstd102humanUncertain significance GRCh37 chr2: 118,991,485-120,025,223 , GRCh38.p12 chr2: 118,233,909-119,267,647 MARCO, LOC107985815, 9 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
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