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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964091copy number variation1nstd209human GRCh38 chr22: 39,312,556-39,312,655 , GRCh37.p13 chr22: 39,708,561-39,708,660 RPL3, SNORD83B
    nsv5362469translocation1nstd200human GRCh38 chr5: 104,986,809-104,986,809 , GRCh38 chr22: 39,317,681-39,317,681 , GRCh37.p13 chr22: 39,713,686-39,713,686 , GRCh37.p13 chr5: 104,322,510-104,322,510 RPL3, SNORD43
    nsv5343040translocation1nstd200human GRCh37 chr22: 39,708,668-39,708,668 , GRCh37 chr22: 39,708,561-39,708,561 , GRCh38.p12 chr22: 39,312,556-39,312,556 , GRCh38.p12 chr22: 39,312,663-39,312,663 SNORD83B, RPL3
    nsv5330230translocation1nstd200human GRCh37 chr22: 39,713,686-39,713,686 , GRCh37 chr5: 104,322,510-104,322,510 , GRCh38.p12 chr5: 104,986,809-104,986,809 , GRCh38.p12 chr22: 39,317,681-39,317,681 RPL3, SNORD43
    nsv5323461translocation1nstd204human GRCh37.p13 chr22: 39,713,686-39,713,686 , GRCh37.p13 chr5: 104,322,510-104,322,510 , GRCh38.p13 chr22: 39,317,681-39,317,681 , GRCh38.p13 chr5: 104,986,809-104,986,809 RPL3, SNORD43
    nsv5288097copy number variation1nstd204human GRCh38.p13 chr22: 38,982,101-39,534,900 , GRCh37.p13 chr22: 39,378,106-39,930,905 APOBEC3C, COX5BP7, 25 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
    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
    nsv4629833copy number variation1nstd183human GRCh37 chr22: 39,714,194-39,715,348 , GRCh38.p12 chr22: 39,318,189-39,319,343 SNORD43, RPL3
    nsv4619640copy number variation1nstd183human GRCh37 chr22: 39,714,831-39,715,471 , GRCh38.p12 chr22: 39,318,826-39,319,466 RPL3, SNORD43
    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
    nsv4291844copy number variation1nstd166human GRCh37.p13 chr22: 39,561,526-39,742,368 , GRCh38.p12 chr22: 39,165,521-39,346,363 PDGFB, RPL3, 4 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
    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
    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
    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
    nsv3910659copy number variation1nstd102humanPathogenic NCBI36 chr22: 37,642,438-49,574,364 , GRCh37.p13 chr22: 39,312,492-51,227,498 , GRCh38.p12 chr22: 38,916,487-50,789,070 LOC100506472, MCHR1, 314 more genes
    nsv3910634copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,061,769-50,738,932 , NCBI36 chr22: 35,787,755-49,524,226 , GRCh37 chr22: 37,457,809-51,177,360 HDAC10, RPS25P10, 381 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
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