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Items: 1 to 20 of 94

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5039697copy number variation1nstd200human GRCh38 chr22: 30,418,010-30,429,009 , GRCh37.p13 chr22: 30,813,999-30,824,996 , RNU6-564P, 2 more genes
    nsv5036168copy number variation1nstd200human GRCh38 chr22: 30,378,114-30,449,390 , GRCh37.p13 chr22: 30,774,103-30,845,377 , SEC14L3, 9 more genes
    nsv4884718copy number variation1nstd200human GRCh37 chr22: 30,774,103-30,845,377 , GRCh38.p12 chr22: 30,378,114-30,449,390 , LOC105372991, 9 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
    nsv4436827inversion1nstd102humanLikely pathogenic GRCh38.p12 chr22: 29,288,727-31,344,669 , GRCh37 chr22: 29,684,716-31,740,655 AP1B1, EWSR1, 81 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
    nsv4316382inversion1nstd166human GRCh37.p13 chr22: 22,466,414-30,881,792 , GRCh38.p12 chr22: 22,112,004-30,485,805 , CRYBB2, 313 more genes
    nsv4287990copy number variation1nstd166human GRCh37.p13 chr22: 30,667,005-30,900,811 , GRCh38.p12 chr22: 30,271,016-30,504,824 , SEC14L3, 15 more genes
    nsv3969531copy number variation1nstd168human GRCh38 chr22: 30,422,554-30,452,692 , GRCh37.p13 chr22: 30,818,543-30,848,679 , SEC14L2, 5 more genes
    nsv3923324copy number variation1nstd102humanUncertain significance NCBI36 chr22: 29,038,245-29,676,302 , GRCh37 chr22: 30,708,245-31,346,302 , GRCh38 chr22: 30,312,256-30,950,316 SLC35E4, OSBP2, 28 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
    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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