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Items: 1 to 20 of 149

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4900530copy number variation1nstd200human GRCh38 chr2: 20,482,526-20,602,603 , GRCh37.p13 chr2: 20,682,287-20,802,363 LOC102724948, NDUFAF2P1, 3 more genes
    nsv4900529copy number variation1nstd200human GRCh38 chr2: 20,478,135-20,480,224 , GRCh37.p13 chr2: 20,677,896-20,679,985 LOC107985856
    nsv4775685copy number variation1nstd200human GRCh37 chr2: 20,682,287-20,802,363 , GRCh38.p12 chr2: 20,482,526-20,602,603 NDUFAF2P1, LOC107985856, 3 more genes
    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
    nsv4557282mobile element insertion1nstd166human GRCh37.p13 chr2: 20,698,961-20,698,961 , GRCh38.p12 chr2: 20,499,201-20,499,201 LOC107985856
    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
    nsv4067475copy number variation1nstd166human GRCh37.p13 chr2: 20,690,524-20,690,581 , GRCh38.p12 chr2: 20,490,764-20,490,821 LOC107985856
    nsv4060331copy number variation1nstd166human GRCh37.p13 chr2: 20,677,357-20,677,732 , GRCh38.p12 chr2: 20,477,596-20,477,971 LOC107985856
    nsv3914242copy number variation1nstd102humanUncertain significance NCBI36 chr2: 20,532,746-20,681,026 , GRCh37.p13 chr2: 20,669,265-20,817,545 , GRCh38.p12 chr2: 20,469,504-20,617,785 NDUFAF2P1, RPS25P3, 4 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
    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
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
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