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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683772copy number variation1nstd102humanPathogenic GRCh37 chr22: 46,731,288-46,731,753 , GRCh38.p12 chr22: 46,335,391-46,335,856 TRMU
    nsv4683432copy number variation1nstd102humanPathogenic GRCh37 chr22: 46,739,149-46,739,275 , GRCh38.p12 chr22: 46,343,252-46,343,378 TRMU
    nsv3915970copy number variation1nstd102humanPathogenic NCBI36 chr19: 13,006,480-13,255,500 , GRCh37 chr19: 13,145,480-13,394,500 , GRCh38 chr19: 13,034,666-13,283,686 TRMT1, CACNA1A, 7 more genes
    nsv3900214copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,151,555-51,195,728 , GRCh38.p12 chr22: 41,755,551-50,757,300 TYMP, MIR4535, 218 more genes
    nsv6290298copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,321,321-51,244,066 , GRCh38.p12 chr22: 41,925,317-50,805,638 CERK, LINC01315, 212 more genes
    nsv3912011copy number variation1nstd102humanPathogenic NCBI36 chr22: 40,597,093-49,525,130 , GRCh38 chr22: 41,871,143-50,739,836 , GRCh37 chr22: 42,267,147-51,178,264 TUBGCP6, MAPK12, 213 more genes
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv4351202copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,416,026-51,181,759 , GRCh38.p12 chr22: 42,020,022-50,743,331 PLXNB2, WBP2NL, 204 more genes
    nsv3893572copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,441,918-51,197,838 , GRCh38.p12 chr22: 42,045,914-50,759,410 CYP2D8P, CYP2D6, 206 more genes
    nsv3920027copy number variation1nstd102humanPathogenic GRCh38 chr22: 42,433,752-50,738,932 , NCBI36 chr22: 41,159,702-49,524,226 , GRCh37 chr22: 42,829,758-51,177,360 MIR6821, CHKB, 187 more genes
    nsv3909355copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,955,616-51,183,840 , GRCh38.p12 chr22: 42,559,610-50,745,412 LOC101927499, LOC101927393, 182 more genes
    nsv6314059copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,972,719-51,197,838 , GRCh38.p12 chr22: 42,576,713-50,759,410 TRABD, LOC100422416, 181 more genes
    nsv3897841copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,050,743-51,197,838 , GRCh38.p12 chr22: 42,654,737-50,759,410 LINC00229, MPPED1, 176 more genes
    nsv3905339copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,111,156-51,183,840 , GRCh38.p12 chr22: 42,715,150-50,745,412 RPL5P34, LINC00207, 174 more genes
    nsv3911529copy number variation1nstd102humanPathogenic NCBI36 chr22: 41,552,196-49,525,130 , GRCh37 chr22: 43,222,252-51,178,264 , GRCh38 chr22: 42,826,246-50,739,836 TAFA5, ATXN10, 169 more genes
    nsv3912301copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,233,100-51,174,234 , GRCh38 chr22: 42,837,094-50,735,806 , NCBI36 chr22: 41,563,044-49,521,100 TTLL8, ANP32BP2, 168 more genes
    nsv3900468copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,320,284-51,183,840 , GRCh38.p12 chr22: 42,924,278-50,745,412 CHKB, LOC105373081, 166 more genes
    nsv3923135copy number variation1nstd102humanPathogenic GRCh38 chr22: 42,493,445-50,268,479 , GRCh37 chr22: 42,889,451-50,706,908 , NCBI36 chr22: 41,219,395-49,049,035 LINC01656, LOC107985537, 156 more genes
    nsv3902752copy number variation1nstd102humanPathogenic GRCh37 chr22: 43,381,459-51,197,838 , GRCh38.p12 chr22: 42,985,453-50,759,410 SCO2, LINC01644, 168 more genes
    nsv4685945copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,032,129-50,739,836 , GRCh37.p13 chr22: 43,428,135-51,178,264 LOC101927474, SHISAL1, 165 more genes
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