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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
    nsv5564410copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,983,523-37,983,587 , GRCh37 chr22: 38,379,530-38,379,594 POLR2F, SOX10
    nsv5200376copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,155,164-38,541,997 , GRCh38.p12 chr22: 37,759,157-38,145,990 H1-0, PLA2G6, 18 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
    nsv4684388delins1nstd102humanPathogenic GRCh38 chr22: 37,973,811-37,974,938 , GRCh37 chr22: 38,369,818-38,370,945 POLR2F, SOX10
    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
    nsv4676116copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,002,218-38,973,070 , GRCh38.p12 chr22: 37,606,211-38,577,065 CSNK1E, RN7SL704P, 43 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
    nsv4278013copy number variation1nstd166human GRCh37.p13 chr22: 37,381,892-38,500,309 , GRCh38.p12 chr22: 36,985,851-38,104,302 GGA1, GALR3, 46 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
    nsv3918848copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,805,546-37,983,784 , GRCh37 chr22: 38,201,553-38,379,791 MIR6820, GALR3, 11 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
    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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