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Items: 1 to 20 of 106

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5948363copy number variation1nstd209human GRCh38 chr22: 36,921,117-36,921,332 , GRCh37.p13 chr22: 37,317,159-37,317,374 CSF2RB, LOC105373023
    nsv5287115copy number variation1nstd204human GRCh38.p13 chr22: 36,898,162-36,917,490 , GRCh37.p13 chr22: 37,294,204-37,313,532 CSF2RB, LOC105373023
    nsv5285762copy number variation1nstd204human GRCh38.p13 chr22: 36,751,901-37,231,800 , GRCh37.p13 chr22: 37,147,945-37,627,840 RN7SKP214, LOC105373022, 20 more genes
    nsv5039918copy number variation1nstd200human GRCh38 chr22: 36,928,601-36,928,692 , GRCh37.p13 chr22: 37,324,643-37,324,734 CSF2RB
    nsv4874148copy number variation1nstd200human GRCh37 chr22: 37,324,643-37,324,734 , GRCh38.p12 chr22: 36,928,601-36,928,692 CSF2RB
    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
    nsv4676195copy number variation1nstd102humanUncertain significance GRCh37 chr22: 37,333,935-37,396,733 , GRCh38.p12 chr22: 36,937,893-37,000,692 CSF2RBP1, CSF2RB, 2 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
    nsv3957934insertion1nstd168human GRCh38 chr22: 36,825,604-36,927,428 , GRCh37.p13 chr22: 37,221,648-37,323,470 CSF2RB, NCF4, 3 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
    nsv3918055copy number variation1nstd102humanUncertain significance GRCh37 chr22: 37,300,872-37,951,517 , NCBI36 chr22: 35,630,818-36,281,463 , GRCh38 chr22: 36,904,830-37,555,510 LOC105373024, ELFN2, 21 more genes
    nsv3914747copy number variation1nstd102humanPathogenic NCBI36 chr22: 35,278,369-36,395,868 , GRCh38 chr22: 36,552,376-37,669,915 , GRCh37 chr22: 36,948,423-38,065,922 ELFN2, LGALS2, 35 more genes
    nsv3914617copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,261,514-37,583,387 , GRCh38 chr22: 20,907,226-37,187,347 , NCBI36 chr22: 19,591,514-35,913,333 RASL10A, SNORD125, 525 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
    nsv3907231copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,114,244-51,211,392 , GRCh38.p12 chr22: 16,367,190-50,772,964 DDTL, PPP1R26P3, 1084 more genes
    nsv3906962copy number variation1nstd102humanPathogenic GRCh37 chr22: 35,728,929-51,220,961 , GRCh38.p12 chr22: 35,332,936-50,782,533 UQCRFS1P1, APOBEC3F, 435 more genes
    nsv3904443copy number variation1nstd102humanPathogenic GRCh37 chr22: 36,877,226-38,548,989 , GRCh38.p12 chr22: 36,481,179-38,152,982 LOC107985576, IL2RB, 63 more genes
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