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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5951032copy number variation1nstd209human GRCh38 chr22: 40,677,551-40,677,850 , GRCh37.p13 chr22: 41,073,555-41,073,854 MCHR1
    nsv5360594translocation1nstd200human GRCh38 chr22: 40,681,433-40,681,433 , GRCh38 chr22: 40,681,355-40,681,355 , GRCh37.p13 chr22: 41,077,359-41,077,359 , GRCh37.p13 chr22: 41,077,437-41,077,437 MCHR1
    nsv5340047translocation1nstd200human GRCh37 chr22: 41,077,437-41,077,437 , GRCh37 chr22: 41,077,359-41,077,359 , GRCh38.p12 chr22: 40,681,433-40,681,433 , GRCh38.p12 chr22: 40,681,355-40,681,355 MCHR1
    nsv5171475mobile element insertion1nstd203human GRCh38 chr22: 40,677,846-40,677,846 , GRCh37.p13 chr22: 41,073,850-41,073,850 MCHR1
    nsv5160416mobile element insertion1nstd203human GRCh38 chr22: 40,677,514-40,677,529 , GRCh37.p13 chr22: 41,073,518-41,073,533 MCHR1
    nsv4878602copy number variation1nstd200human GRCh37 chr22: 41,072,384-41,073,687 , GRCh38.p12 chr22: 40,676,380-40,677,683 MCHR1
    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
    nsv4680014copy number variation1nstd189human GRCh37.p13 chr22: 40,744,858-41,816,746 , GRCh38.p12 chr22: 40,348,854-41,420,742 , ADSL, 37 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
    nsv4676243copy number variation1nstd102humanUncertain significance GRCh37 chr22: 40,665,986-41,370,008 , GRCh38.p12 chr22: 40,269,982-40,974,004 RPL4P6, RBX1, 18 more genes
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4626001copy number variation1nstd183human GRCh37 chr22: 40,975,212-41,202,150 , GRCh38.p12 chr22: 40,579,208-40,806,146 , MCHR1, 6 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
    nsv4426530copy number variation1nstd174human GRCh37 chr22: 41,072,801-41,081,100 , GRCh38.p12 chr22: 40,676,797-40,685,096 MCHR1
    nsv4343389sequence alteration1nstd166human GRCh37.p13 chr22: 41,043,491-41,102,944 , GRCh38.p12 chr22: 40,647,487-40,706,940 , MCHR1, 1 more genes
    nsv4273482copy number variation1nstd166human GRCh37.p13 chr22: 41,072,463-41,073,534 , GRCh38.p12 chr22: 40,676,459-40,677,530 MCHR1
    nsv3924136copy number variation1nstd102humanPathogenic GRCh38 chr22: 40,202,014-50,735,806 , GRCh37 chr22: 40,598,018-51,174,234 , NCBI36 chr22: 38,927,964-49,521,100 CYP2D8P, TBC1D22A-AS1, 270 more genes
    nsv3923309copy number variation1nstd102humanUncertain significance NCBI36 chr22: 37,873,393-39,965,372 , GRCh37.p13 chr22: 39,543,447-41,635,426 , GRCh38.p12 chr22: 39,147,442-41,239,422 MIR1281, CBX7, 57 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
    nsv3921081copy number variation1nstd102humanUncertain significance GRCh37 chr22: 40,827,458-41,330,352 , GRCh38 chr22: 40,431,454-40,934,348 , NCBI36 chr22: 39,157,404-39,660,298 RNU6-379P, JTBP1, 13 more genes
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