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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5037688copy number variation1nstd200human GRCh38 chr22: 40,350,246-40,351,970 , GRCh37.p13 chr22: 40,746,250-40,747,974 ADSL
    nsv5031293copy number variation1nstd200human GRCh38 chr22: 40,354,301-40,354,689 , GRCh37.p13 chr22: 40,750,305-40,750,693 ADSL
    nsv5029745copy number variation1nstd200human GRCh38 chr22: 40,374,419-40,383,329 , GRCh37.p13 chr22: 40,770,423-40,779,333 ADSL, SGSM3, 1 more genes
    nsv4873467copy number variation1nstd200human GRCh37 chr22: 40,770,423-40,779,333 , GRCh38.p12 chr22: 40,374,419-40,383,329 ADSL, SGSM3, 1 more genes
    nsv4872641copy number variation1nstd200human GRCh37 chr22: 40,746,250-40,747,974 , GRCh38.p12 chr22: 40,350,246-40,351,970 ADSL
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729879copy number variation1nstd102humanUncertain significance GRCh37 chr22: 40,723,778-40,774,437 , GRCh38.p12 chr22: 40,327,774-40,378,433 ADSL, SGSM3, 2 more genes
    nsv4683740copy number variation2nstd102humanUncertain significance, Likely pathogenic GRCh37 chr22: 40,760,260-40,762,546 , GRCh38.p12 chr22: 40,364,256-40,366,542 ADSL
    nsv4682071copy number variation1nstd102humanUncertain significance GRCh37 chr22: 40,742,514-40,749,141 , GRCh38.p12 chr22: 40,346,510-40,353,137 ADSL
    nsv4680014copy number variation1nstd189human GRCh37.p13 chr22: 40,744,858-41,816,746 , GRCh38.p12 chr22: 40,348,854-41,420,742 , ADSL, 37 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676243copy number variation1nstd102humanUncertain significance GRCh37 chr22: 40,665,986-41,370,008 , GRCh38.p12 chr22: 40,269,982-40,974,004 RPL4P6, RBX1, 18 more genes
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4377117copy number variation1nstd173human GRCh37 chr22: 40,772,509-40,794,922 , GRCh38.p12 chr22: 40,376,505-40,398,918 ADSL, SGSM3-AS1, 1 more genes
    nsv4375522copy number variation1nstd173human GRCh37 chr22: 40,600,538-40,926,862 , GRCh38.p12 chr22: 40,204,534-40,530,858 TNRC6B, SGSM3-AS1, 4 more genes
    nsv4282809copy number variation1nstd166human GRCh37.p13 chr22: 40,750,324-40,750,693 , GRCh38.p12 chr22: 40,354,320-40,354,689 ADSL
    nsv4280354copy number variation1nstd166human GRCh37.p13 chr22: 40,742,116-40,742,204 , GRCh38.p12 chr22: 40,346,112-40,346,200 ADSL
    nsv3924136copy number variation1nstd102humanPathogenic GRCh38 chr22: 40,202,014-50,735,806 , GRCh37 chr22: 40,598,018-51,174,234 , NCBI36 chr22: 38,927,964-49,521,100 CYP2D8P, TBC1D22A-AS1, 270 more genes
    nsv3923309copy number variation1nstd102humanUncertain significance NCBI36 chr22: 37,873,393-39,965,372 , GRCh37.p13 chr22: 39,543,447-41,635,426 , GRCh38.p12 chr22: 39,147,442-41,239,422 MIR1281, CBX7, 57 more genes
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