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Items: 1 to 20 of 114

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7068065inversion1nstd229human GRCh38 chr22: 27,585,838-32,538,391 , GRCh37.p13 chr22: 27,981,799-32,934,377 LOC105372995, NEFH, 147 more genes
    nsv7065500inversion1nstd229human GRCh38 chr22: 29,260,563-37,652,385 , GRCh37.p13 chr22: 29,656,552-38,048,392 RFPL1, PATZ1, 217 more genes
    nsv7025874copy number variation1nstd229human GRCh38 chr22: 30,207,193-30,293,349 , GRCh37.p13 chr22: 30,603,182-30,689,338 CASTOR1, HORMAD2, 6 more genes
    nsv7022775copy number variation1nstd229human GRCh38 chr22: 30,246,408-30,246,444 , GRCh37.p13 chr22: 30,642,397-30,642,433 LIF-AS2, LIF
    nsv7020512copy number variation1nstd229human GRCh38 chr22: 30,236,231-30,273,930 , GRCh37.p13 chr22: 30,632,220-30,669,919 LIF-AS2, OSM, 2 more genes
    nsv6638056copy number variation1nstd102humanUncertain significance GRCh37 chr22: 30,649,178-31,035,087 , GRCh38.p12 chr22: 30,253,189-30,639,100 GAL3ST1, SDC4P, 22 more genes
    nsv6311263copy number variation1nstd102humanUncertain significance GRCh37 chr22: 29,083,885-34,046,674 , GRCh38.p12 chr22: 28,687,897-33,650,688 SNORD125, LOC107985533, 145 more genes
    nsv6134210copy number variation1nstd213human GRCh37 chr22: 30,130,000-36,350,001 , GRCh38.p12 chr22: 29,734,011-35,953,953 HMOX1, LIF, 146 more genes
    nsv6134118copy number variation1nstd213human GRCh37 chr22: 27,870,000-35,640,001 , GRCh38.p12 chr22: 27,474,039-35,244,008 AP1B1, EWSR1, 172 more genes
    nsv5360490translocation1nstd200human GRCh38 chr22: 30,239,099-30,239,099 , GRCh38 chr22: 30,239,044-30,239,044 , GRCh37.p13 chr22: 30,635,033-30,635,033 , GRCh37.p13 chr22: 30,635,088-30,635,088 LIF, LIF-AS1
    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
    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
    nsv4290684copy number variation1nstd166human GRCh37.p13 chr22: 30,635,033-30,635,088 , GRCh38.p12 chr22: 30,239,044-30,239,099 LIF-AS1, LIF
    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
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