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Items: 1 to 20 of 928

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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
    nsv7093373copy number variation1nstd102humanUncertain significance GRCh37 chr1: 196,670,448-197,898,389 , GRCh38.p12 chr1: 196,701,318-197,929,259 LHX9, ASPM, 19 more genes
    nsv7044345inversion1nstd229human GRCh38 chr1: 196,256,799-197,729,314 , GRCh37.p13 chr1: 196,225,929-197,698,444 EEF1A1P32, MIR4735, 17 more genes
    nsv6677407copy number variation1nstd229human GRCh38 chr1: 196,887,988-196,888,379 , GRCh37.p13 chr1: 196,857,118-196,857,509 CFHR4
    nsv6673408copy number variation1nstd229human GRCh38 chr1: 196,885,209-196,889,472 , GRCh37.p13 chr1: 196,854,339-196,858,602 CFHR4, LOC100996886
    nsv6673212copy number variation1nstd229human GRCh38 chr1: 196,860,201-196,920,900 , GRCh37.p13 chr1: 196,829,331-196,890,030 CFHR4, LOC105371675, 1 more genes
    nsv6669313copy number variation1nstd229human GRCh38 chr1: 196,881,352-196,914,605 , GRCh37.p13 chr1: 196,850,482-196,883,735 CFHR4, LOC100996886, 1 more genes
    nsv6667984copy number variation1nstd229human GRCh38 chr1: 196,888,796-196,923,689 , GRCh37.p13 chr1: 196,857,926-196,892,819 CFHR4, LOC105371675
    nsv6667813copy number variation1nstd229human GRCh38 chr1: 196,899,370-196,904,947 , GRCh37.p13 chr1: 196,868,500-196,874,077 CFHR4
    nsv6667384copy number variation1nstd229human GRCh38 chr1: 196,854,572-196,913,963 , GRCh37.p13 chr1: 196,823,702-196,883,093 LOC100996886, LOC105371675, 1 more genes
    nsv6662488copy number variation1nstd229human GRCh38 chr1: 196,849,801-196,923,200 , GRCh37.p13 chr1: 196,818,931-196,892,330 CFHR4, LOC100996886, 1 more genes
    nsv6658470copy number variation1nstd229human GRCh38 chr1: 196,901,101-196,904,800 , GRCh37.p13 chr1: 196,870,231-196,873,930 CFHR4
    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
    nsv6636295copy number variation1nstd102humanUncertain significance GRCh37 chr1: 196,828,725-196,877,037 , GRCh38.p12 chr1: 196,859,595-196,907,907 LOC100996886, CFHR4
    nsv6635946copy number variation1nstd227human GRCh38.p12 chr1: 196,854,170-196,909,398 , GRCh37 chr1: 196,823,300-196,878,528 CFHR4, LOC100996886, 1 more genes
    nsv6635686copy number variation1nstd227human GRCh38.p12 chr1: 196,854,170-196,960,180 , GRCh37 chr1: 196,823,300-196,929,310 CFHR2, CFHR4, 2 more genes
    nsv6635656copy number variation6nstd227human GRCh38.p12 chr1: 196,854,170-196,932,623 , GRCh37 chr1: 196,823,300-196,901,753 CFHR4, LOC100996886, 1 more genes
    nsv6635569copy number variation5nstd227human GRCh38.p12 chr1: 196,854,170-196,886,173 , GRCh37 chr1: 196,823,300-196,855,303 CFHR4, LOC100996886
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