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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv7054826inversion1nstd229human GRCh38 chr1: 43,915,848-44,729,930 , GRCh37.p13 chr1: 44,381,520-45,195,602 RNU5F-1, KLF18, 31 more genes
    nsv6650243copy number variation1nstd229human GRCh38 chr1: 44,341,564-44,750,060 , GRCh37.p13 chr1: 44,807,236-45,215,732 KIF2C, ERI3, 10 more genes
    nsv6330432copy number variation1nstd223human GRCh38 chr1: 44,727,399-44,734,334 , GRCh37.p13 chr1: 45,193,071-45,200,006 RNU5D-1
    nsv6321568copy number variation1nstd223human GRCh38 chr1: 44,730,101-44,764,217 , GRCh37.p13 chr1: 45,195,773-45,229,889 KIF2C, SNORD160, 1 more genes
    nsv6316806copy number variation1nstd223human GRCh38 chr1: 44,723,036-44,737,580 , GRCh37.p13 chr1: 45,188,708-45,203,252 LOC105378690, ARMH1, 1 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv4906248copy number variation1nstd200human GRCh38 chr1: 44,729,824-44,734,200 , GRCh37.p13 chr1: 45,195,496-45,199,872 RNU5D-1
    nsv4903421copy number variation1nstd200human GRCh38 chr1: 44,702,442-44,765,978 , GRCh37.p13 chr1: 45,168,114-45,231,650 KIF2C, LOC105378690, 4 more genes
    nsv4773324copy number variation1nstd200human GRCh37 chr1: 45,195,496-45,199,872 , GRCh38.p12 chr1: 44,729,824-44,734,200 RNU5D-1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4679182copy number variation1nstd189human GRCh37.p13 chr1: 44,966,524-45,765,102 , GRCh38.p12 chr1: 44,500,852-45,299,430 PLK3, RPS8, 32 more genes
    nsv4674295copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,424,878-45,207,102 , GRCh38.p12 chr1: 43,959,206-44,741,430 RNU5D-1, ATP6V0B, 28 more genes
    nsv4674119copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,810,778-45,216,633 , GRCh38.p12 chr1: 44,345,106-44,750,961 RNU5F-1, MIR5584, 10 more genes
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