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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098791copy number variation1nstd102humanPathogenic GRCh37 chr17: 55,442,363-56,309,063 , GRCh38.p12 chr17: 57,365,002-58,231,702 MKS1, OR4D2, 21 more genes
    nsv7098766copy number variation1nstd102humanPathogenic GRCh37 chr17: 55,806,534-56,540,597 , GRCh38.p12 chr17: 57,729,173-58,463,236 SRSF1, LOC105371840, 24 more genes
    nsv7071033inversion1nstd229human GRCh38 chr17: 58,198,380-58,199,845 , GRCh37.p13 chr17: 56,275,741-56,277,206 EPX
    nsv6988034copy number variation1nstd229human GRCh38 chr17: 57,983,239-58,340,473 , GRCh37.p13 chr17: 56,060,600-56,417,834 MIR4736, LOC105371841, 16 more genes
    nsv6979102copy number variation1nstd229human GRCh38 chr17: 58,191,118-58,198,410 , GRCh37.p13 chr17: 56,268,479-56,275,771 EPX
    nsv6634423copy number variation1nstd102humanPathogenic GRCh37 chr17: 55,043,662-56,728,123 , GRCh38.p12 chr17: 56,966,301-58,650,762 RNU7-134P, DYNLL2-DT, 42 more genes
    nsv6578241inversion1nstd223human GRCh38 chr17: 58,198,241-58,198,384 , GRCh37.p13 chr17: 56,275,602-56,275,745 EPX
    nsv6310393copy number variation1nstd102humanUncertain significance GRCh37 chr17: 54,671,585-59,938,900 , GRCh38.p12 chr17: 56,594,224-61,861,539 RNF43, LOC107985048, 132 more genes
    nsv6193679copy number variation1nstd214human GRCh38 chr17: 58,190,758-58,190,821 , GRCh37.p13 chr17: 56,268,119-56,268,182 EPX
    nsv6133316copy number variation1nstd213human GRCh37 chr17: 53,930,000-62,410,001 , GRCh38.p12 chr17: 55,852,639-64,332,641 CA4, CD79B, 208 more genes
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv4630091copy number variation1nstd183human GRCh37 chr17: 56,271,295-56,271,475 , GRCh38.p12 chr17: 58,193,934-58,194,114 EPX
    nsv4626994copy number variation1nstd183human GRCh37 chr17: 56,271,172-56,271,358 , GRCh38.p12 chr17: 58,193,811-58,193,997 EPX
    nsv4530867copy number variation1nstd166human GRCh37.p13 chr17: 56,280,753-56,281,309 , GRCh38.p12 chr17: 58,203,392-58,203,948 MKS1, EPX
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv3914957copy number variation1nstd102humanPathogenic GRCh37 chr17: 55,496,167-57,812,825 , GRCh38 chr17: 57,418,806-59,735,464 , NCBI36 chr17: 52,851,166-55,167,607 CLTC, LOC101927557, 67 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3911563copy number variation1nstd102humanPathogenic NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214 PLEKHH3, CHCT1, 958 more genes
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