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Items: 1 to 20 of 144

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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
    nsv5436141copy number variation1nstd206human GRCh38 chr2: 38,758,480-38,772,644 , GRCh37.p13 chr2: 38,985,622-38,999,786 TTC39DP, NPLP1
    nsv5209705copy number variation1nstd204human GRCh37.p13 chr2: 38,972,543-39,070,342 , GRCh38.p13 chr2: 38,745,401-38,843,200 ASS1P2, SRSF7, 5 more genes
    nsv4901273copy number variation1nstd200human GRCh38 chr2: 38,758,705-38,776,859 , GRCh37.p13 chr2: 38,985,847-39,004,001 TTC39DP, NPLP1, 1 more genes
    nsv4728394copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,012,532-39,548,268 , GRCh38.p12 chr2: 37,785,389-39,321,127 ATL2, LOC375196, 37 more genes
    nsv4595552copy number variation1nstd183human GRCh37 chr2: 38,989,885-39,041,780 , GRCh38.p12 chr2: 38,762,743-38,814,638 ASS1P2, TTC39DP, 3 more genes
    nsv4595551copy number variation1nstd183human GRCh37 chr2: 38,989,885-39,002,637 , GRCh38.p12 chr2: 38,762,743-38,775,495 TTC39DP, NPLP1
    nsv4585874copy number variation1nstd183human GRCh37 chr2: 38,885,723-38,995,250 , GRCh38.p12 chr2: 38,658,581-38,768,108 TTC39DP, GALM, 2 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
    nsv4062361copy number variation1nstd166human GRCh37.p13 chr2: 38,987,820-39,045,000 , GRCh38.p12 chr2: 38,760,678-38,817,858 ASS1P2, GEMIN6, 3 more genes
    nsv3968924insertion1nstd168human GRCh38 chr2: 38,694,161-38,768,568 , GRCh37.p13 chr2: 38,921,303-38,995,710 SRSF7, GALM, 2 more genes
    nsv3965479copy number variation1nstd168human GRCh38 chr2: 38,766,391-38,793,618 , GRCh37.p13 chr2: 38,993,533-39,020,760 NPLP1, GEMIN6
    nsv3919677inversion1nstd102humanPathogenic GRCh38.p12 chr2: 37,893,967-47,442,383 , GRCh37 chr2: 38,121,110-47,669,522 ASS1P2, BCYRN1, 151 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
    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
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