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Items: 1 to 20 of 245

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5932583copy number variation1nstd209human GRCh38 chr18: 23,451,473-23,451,522 , GRCh37.p13 chr18: 21,031,437-21,031,486 RIOK3
    nsv5335466translocation1nstd200human GRCh37 chr18: 21,050,194-21,050,194 , GRCh37 chr18: 21,050,253-21,050,253 , GRCh38.p12 chr18: 23,470,230-23,470,230 , GRCh38.p12 chr18: 23,470,289-23,470,289 RIOK3
    nsv5280558copy number variation1nstd204human GRCh38.p13 chr18: 23,478,140-23,481,151 , GRCh37.p13 chr18: 21,058,104-21,061,115 RIOK3
    nsv5024011copy number variation1nstd200human GRCh38 chr18: 23,471,928-23,482,367 , GRCh37.p13 chr18: 21,051,892-21,062,331 RIOK3
    nsv5024010copy number variation1nstd200human GRCh38 chr18: 23,455,442-23,462,348 , GRCh37.p13 chr18: 21,035,406-21,042,312 RIOK3
    nsv5023996copy number variation1nstd200human GRCh38 chr18: 22,048,064-24,963,279 , GRCh37.p13 chr18: 19,628,025-22,543,243 , LOC105372028, 47 more genes
    nsv4854585copy number variation1nstd200human GRCh37 chr18: 21,035,385-21,042,268 , GRCh38.p12 chr18: 23,455,421-23,462,304 RIOK3
    nsv4740934copy number variation1nstd199human GRCh37 chr18: 21,049,256-21,049,390 , GRCh38.p12 chr18: 23,469,292-23,469,426 RIOK3
    nsv4737043copy number variation1nstd199human GRCh37 chr18: 21,041,912-21,041,969 , GRCh38.p12 chr18: 23,461,948-23,462,005 RIOK3
    nsv4676328copy number variation1nstd102humanLikely benign GRCh37 chr18: 20,958,811-21,082,161 , GRCh38.p12 chr18: 23,378,847-23,502,197 TMEM241, RMC1, 1 more genes
    nsv4676155copy number variation1nstd102humanPathogenic GRCh37 chr18: 20,689,919-49,455,212 , GRCh38.p12 chr18: 23,109,955-51,928,842 KLHL14, RPL23AP77, 318 more genes
    nsv4509037mobile element insertion1nstd166human GRCh37.p13 chr18: 21,056,372-21,056,372 , GRCh38.p12 chr18: 23,476,408-23,476,408 RIOK3
    nsv4365240copy number variation1nstd173human GRCh37 chr18: 20,782,264-21,628,932 , GRCh38.p12 chr18: 23,202,300-24,048,968 , LAMA3, 11 more genes
    nsv4257257copy number variation1nstd166human GRCh37.p13 chr18: 21,035,443-21,042,204 , GRCh38.p12 chr18: 23,455,479-23,462,240 RIOK3
    nsv3932622copy number variation1nstd167human GRCh37 chr18: 21,058,570-21,058,608 , GRCh38.p12 chr18: 23,478,606-23,478,644 RIOK3
    nsv3924706copy number variation1nstd102humanPathogenic GRCh37 chr18: 136,227-78,014,123 , GRCh38 chr18: 136,227-80,256,240 , NCBI36 chr18: 126,227-76,115,097 LOC100420948, NPM1P2, 941 more genes
    nsv3924638copy number variation1nstd102humanPathogenic GRCh38 chr18: 20,962,119-74,691,446 , NCBI36 chr18: 16,796,078-70,532,390 , GRCh37 chr18: 18,542,080-72,403,402 HMGN1P30, LOC107985134, 596 more genes
    nsv3924351copy number variation1nstd102humanPathogenic NCBI36 chr18: 108,760-76,113,817 , GRCh38 chr18: 118,760-80,254,946 , GRCh37 chr18: 118,760-78,012,829 MIX23P1, LOC105372087, 942 more genes
    nsv3923838copy number variation1nstd102humanPathogenic NCBI36 chr18: 138,963-76,103,255 , GRCh37 chr18: 148,963-78,002,264 , GRCh38 chr18: 148,963-80,244,381 WDR7-OT1, HMGN1P30, 941 more genes
    nsv3920818copy number variation1nstd102humanPathogenic NCBI36 chr18: 15,370,696-76,117,153 , GRCh37.p13 chr18: 15,380,696-78,016,181 , GRCh38.p12 chr18: 15,380,697-80,258,298 AQP4-AS1, SERPINB8, 670 more genes
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