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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6668125copy number variation1nstd229human GRCh38 chr2: 20,360,534-20,399,186 , GRCh37.p13 chr2: 20,560,295-20,598,947 SLC7A15P
    nsv6666933copy number variation1nstd229human GRCh38 chr2: 20,363,194-20,402,492 , GRCh37.p13 chr2: 20,562,955-20,602,253 SLC7A15P, RNA5SP86
    nsv6659508copy number variation1nstd229human GRCh38 chr2: 20,383,947-20,388,806 , GRCh37.p13 chr2: 20,583,708-20,588,567 SLC7A15P
    nsv6658422copy number variation1nstd229human GRCh38 chr2: 19,749,421-21,263,284 , GRCh37.p13 chr2: 19,949,182-21,486,156 LOC107985856, CISD1P1, 33 more genes
    nsv6636815copy number variation1nstd102humanPathogenic GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573 LOC105374455, RN7SL674P, 504 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
    nsv6349174copy number variation1nstd223human GRCh38 chr2: 20,383,947-20,388,803 , GRCh37.p13 chr2: 20,583,708-20,588,564 SLC7A15P
    nsv6342267copy number variation1nstd223human GRCh38 chr2: 20,381,428-20,395,099 , GRCh37.p13 chr2: 20,581,189-20,594,860 SLC7A15P
    nsv6340245copy number variation1nstd223human GRCh38 chr2: 20,363,194-20,402,489 , GRCh37.p13 chr2: 20,562,955-20,602,250 SLC7A15P, RNA5SP86
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv5554484sequence alteration1nstd206human GRCh38 chr2: 20,396,972-20,397,600 , GRCh37.p13 chr2: 20,596,733-20,597,361 SLC7A15P
    nsv5552542insertion1nstd206human GRCh38 chr2: 20,396,973-20,396,973 , GRCh37.p13 chr2: 20,596,734-20,596,734 SLC7A15P
    nsv4674430copy number variation1nstd102humanUncertain significance GRCh37 chr2: 20,576,216-20,684,239 , GRCh38.p12 chr2: 20,376,455-20,484,478 SLC7A15P, RNA5SP86, 3 more genes
    nsv4585253copy number variation1nstd183human GRCh37 chr2: 20,575,991-20,618,904 , GRCh38.p12 chr2: 20,376,230-20,419,143 SLC7A15P, RNA5SP86, 1 more genes
    nsv4454969copy number variation1nstd102humanUncertain significance GRCh37 chr2: 20,167,711-20,601,004 , GRCh38.p12 chr2: 19,967,950-20,401,243 RNU6-961P, RNU7-113P, 15 more genes
    nsv4451022copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,631,145-21,729,493 , GRCh38.p12 chr2: 15,491,021-21,506,621 RAD51AP2, LOC101928149, 82 more genes
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3908459copy number variation1nstd102humanPathogenic NCBI36 chr2: 1,647,394-23,740,517 , GRCh38 chr2: 1,664,615-23,664,142 , GRCh37 chr2: 1,668,387-23,887,012 EIF1P7, LOC105373398, 277 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
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