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Items: 1 to 20 of 175

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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
    nsv5673696copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,416,436-26,418,111 , GRCh38.p12 chr2: 26,193,567-26,195,242 GAREM2, HADHA
    nsv5381577copy number variation1nstd102humanUncertain significance GRCh37 chr2: 26,414,119-26,418,121 , GRCh38.p12 chr2: 26,191,250-26,195,252 GAREM2, HADHA
    nsv5335564translocation1nstd200human GRCh37 chr2: 26,413,510-26,413,510 , GRCh37 chr5: 163,463,054-163,463,054 , GRCh38.p12 chr5: 164,036,048-164,036,048 , GRCh38.p12 chr2: 26,190,641-26,190,641 GAREM2, HADHA
    nsv4900751copy number variation1nstd200human GRCh38 chr2: 26,188,793-26,188,867 , GRCh37.p13 chr2: 26,411,662-26,411,736 GAREM2, HADHA
    nsv4720580insertion1nstd186human GRCh37 chr2: 26,401,752-26,401,752 , GRCh38.p12 chr2: 26,178,883-26,178,883 GAREM2
    nsv4595479copy number variation1nstd183human GRCh37 chr2: 26,395,611-26,396,330 , GRCh38.p12 chr2: 26,172,742-26,173,461 GAREM2
    nsv4533711insertion1nstd166human GRCh37.p13 chr2: 26,401,752-26,401,752 , GRCh38.p12 chr2: 26,178,883-26,178,883 GAREM2
    nsv4450964copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,414,109-26,462,021 , GRCh38.p12 chr2: 26,191,240-26,239,153 GAREM2, HADHA
    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
    nsv4068480copy number variation1nstd166human GRCh37.p13 chr2: 26,393,573-26,400,659 , GRCh38.p12 chr2: 26,170,704-26,177,790 GAREM2
    nsv3967110copy number variation1nstd168human GRCh38 chr2: 26,196,074-26,211,328 , GRCh37.p13 chr2: 26,418,943-26,434,197 HADHA, GAREM2
    nsv3964451copy number variation1nstd168human GRCh38 chr2: 26,135,003-26,172,528 , GRCh37.p13 chr2: 26,357,872-26,395,397 PPIL1P1, RAB10, 3 more genes
    nsv3951562insertion1nstd167human GRCh37 chr2: 26,401,757-26,401,757 , GRCh38.p12 chr2: 26,178,888-26,178,888 GAREM2
    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
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