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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4928931copy number variation1nstd200human GRCh38 chr2: 178,465,054-178,481,667 , GRCh37.p13 chr2: 179,329,781-179,346,394 PLEKHA3, PJVK, 1 more genes
    nsv4909841copy number variation1nstd200human GRCh38 chr2: 178,471,336-178,472,714 , GRCh37.p13 chr2: 179,336,063-179,337,441 FKBP7
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4804434copy number variation1nstd200human GRCh37 chr2: 179,329,781-179,346,394 , GRCh38.p12 chr2: 178,465,054-178,481,667 PJVK, FKBP7, 1 more genes
    nsv4794982copy number variation1nstd200human GRCh37 chr2: 179,336,066-179,337,442 , GRCh38.p12 chr2: 178,471,339-178,472,715 FKBP7
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728615copy number variation1nstd102humanUncertain significance GRCh37 chr2: 177,542,722-179,538,238 , GRCh38.p12 chr2: 176,677,994-178,673,511 MIR3128, PLEKHA3, 40 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4520064copy number variation1nstd166human GRCh37.p13 chr2: 179,336,094-179,337,412 , GRCh38.p12 chr2: 178,471,367-178,472,685 FKBP7
    nsv4454648copy number variation1nstd102humanPathogenic GRCh37 chr2: 173,538,954-186,401,606 , GRCh38.p12 chr2: 172,674,226-185,536,879 PDE11A, LOC100289479, 176 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4089789copy number variation1nstd166human GRCh37.p13 chr2: 179,336,045-179,336,325 , GRCh38.p12 chr2: 178,471,318-178,471,598 FKBP7
    nsv4080704copy number variation1nstd166human GRCh37.p13 chr2: 179,336,325-179,337,320 , GRCh38.p12 chr2: 178,471,598-178,472,593 FKBP7
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
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