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Items: 1 to 20 of 66

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5668975insertion1nstd207human GRCh38 chr22: 39,531,978-39,531,978 , GRCh37.p13 chr22: 39,927,983-39,927,983 RPS19BP1
    nsv5360583translocation1nstd200human GRCh38 chr22: 39,527,979-39,527,979 , GRCh38 chr22: 39,528,047-39,528,047 , GRCh37.p13 chr22: 39,924,052-39,924,052 , GRCh37.p13 chr22: 39,923,984-39,923,984 RPS19BP1
    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
    nsv5038486copy number variation1nstd200human GRCh38 chr22: 39,486,153-39,539,517 , GRCh37.p13 chr22: 39,882,158-39,935,522 RPS19BP1, LOC105373035, 3 more genes
    nsv4882825copy number variation1nstd200human GRCh37 chr22: 39,882,158-39,935,522 , GRCh38.p12 chr22: 39,486,153-39,539,517 MIEF1, ATF4, 3 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
    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
    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
    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
    nsv3902776copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,667-51,243,435 , GRCh38.p12 chr22: 16,367,190-50,805,007 LOC100419811, MTCO2P20, 1084 more genes
    nsv3902598copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,691-51,220,902 , GRCh38.p12 chr22: 16,367,190-50,782,474 FABP5P11, SLC2A11, 1084 more genes
    nsv3894026copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,054,691-51,237,518 , GRCh38.p12 chr22: 16,367,190-50,799,090 IGKV3OR22-2, ZDHHC8, 1084 more genes
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