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Items: 1 to 20 of 90

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673427copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-30,337,586 , GRCh38.p12 chr22: 28,687,897-29,941,597 SNORD125, RASL10A, 36 more genes
    nsv5673351copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,105,984-30,337,586 , GRCh38.p12 chr22: 28,709,996-29,941,597 SNORD125, RASL10A, 36 more genes
    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
    nsv4729897copy number variation1nstd102humanPathogenic GRCh37 chr22: 28,291,202-30,450,920 , GRCh38.p12 chr22: 27,895,214-30,054,931 RNU6-810P, THOC5, 48 more genes
    nsv4683866copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,875-30,090,801 , GRCh38.p12 chr22: 28,687,887-29,694,812 RNU6-1219P, EMID1, 29 more genes
    nsv4682263copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-29,621,477 , GRCh38.p12 chr22: 28,687,897-29,225,488 XBP1, CCDC117, 13 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
    nsv4383389copy number variation1nstd173human GRCh37 chr22: 21,465,662-33,984,045 , GRCh38.p12 chr22: 21,111,373-33,588,059 , XBP1, 450 more genes
    nsv4382547copy number variation1nstd173human GRCh37 chr22: 29,167,331-29,420,651 , GRCh38.p12 chr22: 28,771,343-29,024,663 ZNRF3-AS1, LOC646408, 4 more genes
    nsv4316382inversion1nstd166human GRCh37.p13 chr22: 22,466,414-30,881,792 , GRCh38.p12 chr22: 22,112,004-30,485,805 , CRYBB2, 313 more genes
    nsv3924941copy number variation1nstd102humanPathogenic GRCh38 chr22: 26,221,273-29,477,543 , GRCh37 chr22: 26,617,239-29,873,532 , NCBI36 chr22: 24,947,239-28,203,532 TFIP11, RASL10A, 66 more genes
    nsv3923205copy number variation1nstd102humanPathogenic NCBI36 chr22: 25,177,008-30,177,912 , GRCh37 chr22: 26,847,008-31,847,912 , GRCh38 chr22: 26,451,042-31,451,926 DRG1, THOC5, 138 more genes
    nsv3922708copy number variation1nstd102humanPathogenic GRCh38 chr22: 23,279,231-36,247,369 , GRCh37 chr22: 23,621,418-36,643,415 , NCBI36 chr22: 21,951,418-34,973,361 DRICH1, MMP11, 316 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
    nsv3919429copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,661,724-32,217,179 , GRCh38 chr22: 18,178,957-31,821,193 , NCBI36 chr22: 17,041,724-30,547,179 PCAT14, MIR3199-1, 533 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
    nsv3918839copy number variation1nstd102humanPathogenic GRCh37 chr22: 28,837,023-30,672,500 , GRCh38 chr22: 28,441,035-30,276,511 , NCBI36 chr22: 27,167,023-29,002,500 RPEP4, LOC101929638, 51 more genes
    nsv3915130copy number variation1nstd102humanPathogenic GRCh38 chr22: 26,979,579-33,992,220 , NCBI36 chr22: 25,705,542-32,718,209 , GRCh37 chr22: 27,375,542-34,388,209 TIMP3, MIR7109, 170 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
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