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Items: 1 to 20 of 110

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5723654mobile element insertion2nstd211human GRCh38 chr22: 37,817,186-37,817,186 , GRCh37.p13 chr22: 38,213,193-38,213,193 GCAT
    nsv5560619mobile element insertion1nstd206human GRCh38 chr22: 37,817,186-37,817,226 , GRCh37.p13 chr22: 38,213,193-38,213,233 GCAT
    nsv5200376copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,155,164-38,541,997 , GRCh38.p12 chr22: 37,759,157-38,145,990 H1-0, PLA2G6, 18 more genes
    nsv5184058mobile element insertion1nstd203human GRCh38 chr22: 37,817,170-37,817,186 , GRCh37.p13 chr22: 38,213,177-38,213,193 GCAT
    nsv5167112mobile element insertion1nstd203human GRCh38 chr22: 37,811,178-37,811,192 , GRCh37.p13 chr22: 38,207,185-38,207,199 GCAT
    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
    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
    nsv4676116copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,002,218-38,973,070 , GRCh38.p12 chr22: 37,606,211-38,577,065 CSNK1E, RN7SL704P, 43 more genes
    nsv4577371mobile element insertion1nstd166human GRCh37.p13 chr22: 38,213,177-38,213,177 , GRCh38.p12 chr22: 37,817,170-37,817,170 GCAT
    nsv4575616mobile element insertion1nstd166human GRCh37.p13 chr22: 38,203,993-38,203,993 , GRCh38.p12 chr22: 37,807,986-37,807,986 GCAT
    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
    nsv4278013copy number variation1nstd166human GRCh37.p13 chr22: 37,381,892-38,500,309 , GRCh38.p12 chr22: 36,985,851-38,104,302 GGA1, GALR3, 46 more genes
    nsv3922654copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,721,797-40,860,953 , GRCh37 chr22: 38,117,804-41,256,957 , NCBI36 chr22: 36,447,750-39,586,903 RPS29P31, UQCRFS1P1, 103 more genes
    nsv3922128copy number variation1nstd102humanPathogenic GRCh37 chr22: 35,729,986-39,296,182 , NCBI36 chr22: 34,059,986-37,626,128 , GRCh38 chr22: 35,333,993-38,900,177 LOC102724378, CARD10, 120 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
    nsv3919085copy number variation1nstd102humanPathogenic NCBI36 chr22: 17,008,132-49,591,432 , GRCh37.p13 chr22: 18,628,132-51,244,566 , GRCh38.p12 chr22: 18,145,365-50,806,138 IGLV2-28, LINC01310, 1023 more genes
    nsv3918848copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,805,546-37,983,784 , GRCh37 chr22: 38,201,553-38,379,791 MIR6820, GALR3, 11 more genes
    nsv3915039copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,447,222-39,103,680 , GRCh37 chr22: 37,843,259-39,499,685 , NCBI36 chr22: 36,173,205-37,829,631 MIR4534, SLC16A8, 68 more genes
    nsv3913775copy number variation1nstd102humanPathogenic NCBI36 chr22: 15,777,498-49,525,130 , GRCh38 chr22: 16,916,608-50,739,836 , GRCh37 chr22: 17,397,498-51,178,264 ZNF280A, RFPL1S, 1059 more genes
    nsv3913000copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,117,784-39,282,669 , GRCh38 chr22: 37,721,777-38,886,664 , NCBI36 chr22: 36,447,730-37,612,615 DDX17, MICALL1, 46 more genes
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