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Items: 1 to 20 of 414

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7046755inversion1nstd229human GRCh38 chr1: 197,153,978-198,848,199 , GRCh37.p13 chr1: 197,123,108-198,817,328 FAM204BP, RPL24P5, 15 more genes
    nsv6675806copy number variation1nstd229human GRCh38 chr1: 198,660,140-198,669,437 , GRCh37.p13 chr1: 198,629,269-198,638,566 PTPRC
    nsv6672981copy number variation1nstd229human GRCh38 chr1: 198,660,036-198,663,923 , GRCh37.p13 chr1: 198,629,165-198,633,052 PTPRC
    nsv6670980copy number variation1nstd229human GRCh38 chr1: 198,635,512-198,638,083 , GRCh37.p13 chr1: 198,604,642-198,607,213 PTPRC
    nsv6668952copy number variation1nstd229human GRCh38 chr1: 198,660,042-198,660,069 , GRCh37.p13 chr1: 198,629,171-198,629,198 PTPRC
    nsv6664142copy number variation1nstd229human GRCh38 chr1: 198,662,187-198,662,324 , GRCh37.p13 chr1: 198,631,316-198,631,453 PTPRC
    nsv6661323copy number variation1nstd229human GRCh38 chr1: 198,692,101-198,693,500 , GRCh37.p13 chr1: 198,661,230-198,662,629 PTPRC
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6636659copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 189,633,885-199,854,163 , GRCh38.p12 chr1: 189,664,755-199,885,035 F13B, CFH, 88 more genes
    nsv6636303copy number variation1nstd102humanPathogenic GRCh37 chr1: 193,011,753-199,882,947 , GRCh38.p12 chr1: 193,042,623-199,913,819 RPS2P9, ASPM, 60 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6549148inversion1nstd223human GRCh38 chr1: 197,405,080-199,905,342 , GRCh37.p13 chr1: 197,374,210-199,874,470 FAM204BP, RPL23AP16, 25 more genes
    nsv6335342copy number variation1nstd223human GRCh38 chr1: 198,756,501-198,757,900 , GRCh37.p13 chr1: 198,725,630-198,727,029 PTPRC
    nsv6334470copy number variation1nstd223human GRCh38 chr1: 198,733,298-198,733,725 , GRCh37.p13 chr1: 198,702,427-198,702,854 PTPRC
    nsv6334082copy number variation1nstd223human GRCh38 chr1: 198,637,101-198,638,100 , GRCh37.p13 chr1: 198,606,231-198,607,230 PTPRC
    nsv6333808copy number variation1nstd223human GRCh38 chr1: 198,750,455-198,750,987 , GRCh37.p13 chr1: 198,719,584-198,720,116 PTPRC
    nsv6332568copy number variation1nstd223human GRCh38 chr1: 198,653,101-198,654,300 , GRCh37.p13 chr1: 198,622,230-198,623,429 PTPRC
    nsv6330083copy number variation1nstd223human GRCh38 chr1: 198,756,501-198,759,400 , GRCh37.p13 chr1: 198,725,630-198,728,529 PTPRC
    nsv6328391copy number variation1nstd223human GRCh38 chr1: 198,646,101-198,646,700 , GRCh37.p13 chr1: 198,615,230-198,615,829 PTPRC
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