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Items: 1 to 20 of 79

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129862insertion1nstd186human GRCh37 chr22: 26,949,615-26,949,642 , GRCh38.p12 chr22: 26,553,649-26,553,676 TPST2, MIR548J
    nsv6129233insertion1nstd186human GRCh37 chr22: 26,949,462-26,949,506 , GRCh38.p12 chr22: 26,553,496-26,553,540 MIR548J, TPST2
    nsv5665032insertion1nstd207human GRCh38 chr22: 26,553,546-26,553,546 , GRCh37.p13 chr22: 26,949,512-26,949,512 TPST2, MIR548J
    nsv5547425insertion1nstd206human GRCh38 chr22: 26,553,649-26,553,676 , GRCh37.p13 chr22: 26,949,615-26,949,642 MIR548J, TPST2
    nsv5546005insertion1nstd206human GRCh38 chr22: 26,553,496-26,553,540 , GRCh37.p13 chr22: 26,949,462-26,949,506 MIR548J, TPST2
    nsv4763743insertion1nstd199human GRCh37 chr22: 26,949,510-26,949,510 , GRCh38.p12 chr22: 26,553,544-26,553,544 TPST2, MIR548J
    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
    nsv4676280copy number variation1nstd102humanPathogenic GRCh37 chr22: 26,337,910-28,489,947 , GRCh38.p12 chr22: 25,941,943-28,093,959 LOC646216, MYO18B, 42 more genes
    nsv4676144copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-27,657,507 , GRCh38.p12 chr22: 16,408,173-27,261,546 LINC02891, IGLV4-69, 466 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
    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
    nsv4277416copy number variation1nstd166human GRCh37.p13 chr22: 26,951,175-26,951,787 , GRCh38.p12 chr22: 26,555,209-26,555,821 MIR548J, TPST2
    nsv3924941copy number variation1nstd102humanPathogenic GRCh38 chr22: 26,221,273-29,477,543 , GRCh37 chr22: 26,617,239-29,873,532 , NCBI36 chr22: 24,947,239-28,203,532 TFIP11, RASL10A, 66 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
    nsv3916602copy number variation1nstd102humanUncertain significance NCBI36 chr22: 24,411,115-26,943,393 , GRCh37 chr22: 26,081,115-28,613,393 , GRCh38 chr22: 25,685,148-28,217,405 TFIP11-DT, MIR548J, 45 more genes
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