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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5065176mobile element insertion1nstd203human GRCh38 chr2: 27,365,671-27,365,686 , GRCh37.p13 chr2: 27,588,538-27,588,553 EIF2B4
    nsv4674559copy number variation1nstd102humanUncertain significance GRCh37 chr2: 27,519,013-27,610,482 , GRCh38.p12 chr2: 27,296,145-27,387,615 GTF3C2-AS2, MPV17, 8 more genes
    nsv4583824copy number variation1nstd183human GRCh37 chr2: 27,590,480-27,590,695 , GRCh38.p12 chr2: 27,367,613-27,367,828 EIF2B4
    nsv4453076copy number variation1nstd102humanUncertain significance GRCh37 chr2: 27,583,585-27,637,745 , GRCh38.p12 chr2: 27,360,718-27,414,878 FTH1P3, EIF2B4, 3 more genes
    nsv4389611copy number variation1nstd171human GRCh37 chr2: 27,588,963-27,589,082 , GRCh38.p12 chr2: 27,366,096-27,366,215 EIF2B4
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv4058310copy number variation1nstd166human GRCh37.p13 chr2: 27,583,860-27,585,342 , GRCh38.p12 chr2: 27,360,993-27,362,475 EIF2B4
    nsv4053753copy number variation1nstd166human GRCh37.p13 chr2: 27,585,158-27,585,428 , GRCh38.p12 chr2: 27,362,291-27,362,561 EIF2B4
    nsv3919769copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,776,056-33,845,581 , GRCh37.p13 chr2: 22,922,551-33,992,077 , GRCh38.p12 chr2: 22,699,679-33,767,010 RNA5SP88, EIF2B4, 213 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
    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
    nsv3890734copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,656,029-28,601,557 , GRCh37 chr2: 22,802,524-28,748,053 , GRCh38 chr2: 22,579,652-28,525,186 MAPRE3-AS1, PPIL1P1, 142 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
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
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