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Items: 1 to 20 of 133

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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
    nsv5717896mobile element insertion1nstd211human GRCh38 chr2: 37,326,093-37,326,093 , GRCh37.p13 chr2: 37,553,236-37,553,236 PRKD3-DT
    nsv5562862mobile element insertion1nstd206human GRCh38 chr2: 37,326,107-37,326,144 , GRCh37.p13 chr2: 37,553,250-37,553,287 PRKD3-DT
    nsv4728619copy number variation1nstd102humanUncertain significance GRCh37 chr2: 36,432,453-38,182,274 , GRCh38.p12 chr2: 36,205,310-37,955,131 CDC42EP3, NDUFAF7, 30 more genes
    nsv4585865copy number variation1nstd183human GRCh37 chr2: 37,479,579-37,742,813 , GRCh38.p12 chr2: 37,252,436-37,515,670 PRKD3, QPCT, 6 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
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 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
    nsv4056148copy number variation1nstd166human GRCh37.p13 chr2: 37,548,732-37,595,050 , GRCh38.p12 chr2: 37,321,589-37,367,907 PRKD3-DT, RNU6-939P, 2 more genes
    nsv3911681inversion1nstd102humanPathogenic GRCh38.p12 chr2: 29,223,528-42,325,554 , GRCh37 chr2: 29,446,394-42,552,694 ALK, ASS1P2, 163 more genes
    nsv3911624inversion1nstd102humanLikely pathogenic GRCh38.p12 chr2: 29,224,814-42,327,254 , GRCh37 chr2: 29,447,680-42,554,394 ALK, ASS1P2, 163 more genes
    nsv3908990copy number variation1nstd102humanUncertain significance GRCh38 chr2: 36,809,304-38,309,455 , NCBI36 chr2: 36,889,951-38,390,101 , GRCh37 chr2: 37,036,447-38,536,597 QPCT, LOC344382, 35 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
    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
    nsv3899050copy number variation1nstd102humanPathogenic NCBI36 chr2: 37,081,204-42,035,330 , GRCh37 chr2: 37,227,700-42,181,826 , GRCh38 chr2: 37,000,557-41,954,686 LOC375196, RNU6-939P, 78 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
    nsv3882842copy number variation1nstd102humanPathogenic GRCh37 chr2: 34,792,916-56,676,541 , GRCh38.p12 chr2: 34,567,849-56,449,406 STON1, MSH6, 303 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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