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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5534854insertion1nstd206human GRCh38 chr2: 20,046,796-20,046,812 , GRCh37.p13 chr2: 20,246,557-20,246,573 LAPTM4A
    nsv5358171translocation1nstd200human GRCh38 chr2: 20,050,647-20,050,647 , GRCh38 chr2: 20,050,570-20,050,570 , GRCh37.p13 chr2: 20,250,331-20,250,331 , GRCh37.p13 chr2: 20,250,408-20,250,408 LAPTM4A-DT, LAPTM4A
    nsv5218495copy number variation1nstd204human GRCh38.p13 chr2: 20,044,126-20,045,225 , GRCh37.p13 chr2: 20,243,887-20,244,986 LAPTM4A
    nsv5060897mobile element insertion1nstd203human GRCh38 chr2: 20,047,696-20,047,708 , GRCh37.p13 chr2: 20,247,457-20,247,469 LAPTM4A
    nsv4900512copy number variation1nstd200human GRCh38 chr2: 20,031,786-20,041,033 , GRCh37.p13 chr2: 20,231,547-20,240,794 LAPTM4A
    nsv4775669copy number variation1nstd200human GRCh37 chr2: 20,250,331-20,250,408 , GRCh38.p12 chr2: 20,050,570-20,050,647 LAPTM4A, LAPTM4A-DT
    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
    nsv4059748copy number variation1nstd166human GRCh37.p13 chr2: 20,250,331-20,250,408 , GRCh38.p12 chr2: 20,050,570-20,050,647 LAPTM4A-DT, LAPTM4A
    nsv4055377copy number variation1nstd166human GRCh37.p13 chr2: 20,247,858-20,298,276 , GRCh38.p12 chr2: 20,048,097-20,098,515 LAPTM4A-DT, LAPTM4A
    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
    nsv3908038copy number variation1nstd102humanPathogenic GRCh37 chr2: 12,770-33,936,576 , NCBI36 chr2: 2,770-33,790,080 , GRCh38 chr2: 12,770-33,711,509 LOC105373394, PGAM1P6, 507 more genes
    nsv3907033copy number variation1nstd102humanPathogenic NCBI36 chr2: 20,341-28,496,035 , GRCh38 chr2: 30,341-28,419,664 , GRCh37 chr2: 30,341-28,642,531 GTF3C2-AS1, LOC105373399, 434 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3896997copy number variation1nstd102humanPathogenic GRCh38 chr2: 12,770-25,039,694 , GRCh37 chr2: 12,770-25,262,563 , NCBI36 chr2: 2,770-25,116,067 LOC105373359, MYT1L-AS1, 333 more genes
    nsv3893260copy number variation1nstd102humanPathogenic GRCh37 chr2: 17,019-26,541,714 , GRCh38 chr2: 17,019-26,318,846 , NCBI36 chr2: 7,019-26,395,218 LOC102723389, LOC105373433, 362 more genes
    nsv3891917copy number variation1nstd102humanPathogenic GRCh37 chr2: 16,904,863-21,823,606 , GRCh38 chr2: 16,723,596-21,600,734 , NCBI36 chr2: 16,768,344-21,677,111 LOC105373454, RAD51AP2, 68 more genes
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