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Items: 1 to 20 of 253

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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
    nsv5947695insertion1nstd209human GRCh38 chr2: 42,047,748-42,047,748 , GRCh37.p13 chr2: 42,274,888-42,274,888 PKDCC
    nsv5550459insertion1nstd206human GRCh38 chr2: 42,047,789-42,047,799 , GRCh37.p13 chr2: 42,274,929-42,274,939 PKDCC
    nsv4674020copy number variation1nstd102humanUncertain significance GRCh37 chr2: 41,615,489-42,468,581 , GRCh38.p12 chr2: 41,388,349-42,241,441 LDHAP3, EML4, 10 more genes
    nsv4595576copy number variation1nstd183human GRCh37 chr2: 42,274,488-42,275,846 , GRCh38.p12 chr2: 42,047,348-42,048,706 PKDCC
    nsv4583993copy number variation1nstd183human GRCh37 chr2: 42,274,673-42,275,846 , GRCh38.p12 chr2: 42,047,533-42,048,706 PKDCC
    nsv4533809insertion1nstd166human GRCh37.p13 chr2: 42,274,888-42,274,888 , GRCh38.p12 chr2: 42,047,748-42,047,748 PKDCC
    nsv4452237copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 39,053,852-42,501,893 , GRCh38.p12 chr2: 38,826,710-42,274,753 SLC8A1, SOS1, 38 more genes
    nsv4411648copy number variation1nstd174human GRCh37 chr2: 42,274,488-42,275,846 , GRCh38.p12 chr2: 42,047,348-42,048,706 PKDCC
    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
    nsv4071913copy number variation1nstd166human GRCh37.p13 chr2: 41,498,040-43,350,527 , GRCh38.p12 chr2: 41,270,900-43,123,388 , EML4-AS1, 34 more genes
    nsv4060542copy number variation1nstd166human GRCh37.p13 chr2: 42,260,675-42,298,363 , GRCh38.p12 chr2: 42,033,535-42,071,223 PKDCC
    nsv3919677inversion1nstd102humanPathogenic GRCh38.p12 chr2: 37,893,967-47,442,383 , GRCh37 chr2: 38,121,110-47,669,522 ASS1P2, BCYRN1, 151 more genes
    nsv3918542copy number variation1nstd102humanUncertain significance NCBI36 chr2: 40,965,874-42,145,090 , GRCh37.p13 chr2: 41,112,370-42,291,586 , GRCh38.p12 chr2: 40,885,230-42,064,446 RPS12P4, PKDCC, 9 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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