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Items: 1 to 20 of 77

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5197210mobile element insertion1nstd203human GRCh38 chr22: 38,684,939-38,684,961 , GRCh37.p13 chr22: 39,080,944-39,080,966 TOMM22, JOSD1
    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
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4576407mobile element insertion1nstd166human GRCh37.p13 chr22: 39,080,944-39,080,944 , GRCh38.p12 chr22: 38,684,939-38,684,939 TOMM22, JOSD1
    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
    nsv4436801copy number variation1nstd102humanUncertain significance GRCh37 chr22: 38,838,246-39,260,032 , GRCh38.p12 chr22: 38,442,241-38,864,027 FAM227A, CBY1, 14 more genes
    nsv4383315copy number variation1nstd173human GRCh37 chr22: 39,054,090-39,164,951 , GRCh38.p12 chr22: 38,658,085-38,768,946 GTPBP1, JOSD1, 4 more genes
    nsv3964241insertion1nstd168human GRCh38 chr22: 38,618,963-38,701,643 , GRCh37.p13 chr22: 39,014,968-39,097,648 JOSD1, CBY1, 2 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
    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
    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
    nsv3904446copy number variation1nstd102humanUncertain significance GRCh37 chr22: 39,052,674-39,078,845 , GRCh38.p12 chr22: 38,656,669-38,682,840 CBY1, FAM227A, 2 more genes
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