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Items: 1 to 20 of 115

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7055868inversion1nstd229human GRCh38 chr2: 15,258,864-16,956,190 , GRCh37.p13 chr2: 15,398,988-17,137,457 LINC01804, RPLP1P5, 14 more genes
    nsv7046679inversion1nstd229human GRCh38 chr2: 15,549,049-16,923,511 , GRCh37.p13 chr2: 15,689,173-17,104,778 LOC105373444, NBAS, 13 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
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6311465copy number variation1nstd102humanPathogenic GRCh37 chr2: 16,082,187-16,082,996 , GRCh38.p12 chr2: 15,942,065-15,942,874 MYCNOS, MYCN
    nsv6311225copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,760,332-17,692,222 , GRCh38.p12 chr2: 15,620,208-17,510,955 MYCNUT, RN7SL104P, 18 more genes
    nsv6112733copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,640,273-19,609,496 , GRCh38.p12 chr2: 15,500,149-19,409,735 LOC112267888, LOC105373454, 40 more genes
    nsv5074515mobile element insertion1nstd203human GRCh38 chr2: 15,943,371-15,943,417 , GRCh37.p13 chr2: 16,083,493-16,083,539 MYCN
    nsv4728323copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,621,732-16,226,970 , GRCh38.p12 chr2: 15,481,608-16,086,848 GACAT3, RNU5E-7P, 9 more genes
    nsv4681098copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 15,744,252-17,675,820 , GRCh38.p12 chr2: 15,604,128-17,494,553 DDX1, MYCN, 17 more genes
    nsv4680259copy number variation1nstd189human GRCh37.p13 chr2: 15,812,492-16,105,132 , GRCh38.p12 chr2: 15,672,368-15,965,010 MYCN, MYCNOS, 5 more genes
    nsv4674356copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,478,363-17,062,394 , GRCh38.p12 chr2: 15,338,239-16,881,127 CYRIA, RNU5E-7P, 14 more genes
    nsv4519745copy number variation1nstd166human GRCh37.p13 chr2: 16,052,999-16,233,000 , GRCh38.p12 chr2: 15,912,876-16,092,878 GACAT3, MYCN, 3 more genes
    nsv4454513copy number variation1nstd102humanPathogenic GRCh37 chr2: 16,055,759-16,108,783 , GRCh38.p12 chr2: 15,915,636-15,968,661 MYCNUT, MYCNOS, 2 more genes
    nsv4451073copy number variation1nstd102humanPathogenic GRCh37 chr2: 12,269,293-18,259,781 , GRCh38.p12 chr2: 12,129,167-18,078,515 LINC00276, TRIB2, 49 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
    nsv3908896copy number variation1nstd102humanPathogenic GRCh37 chr2: 6,671,304-16,243,921 , GRCh38 chr2: 6,531,172-16,103,799 , NCBI36 chr2: 6,588,755-16,161,372 RNU6-1288P, MIR7515HG, 138 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
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