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Items: 1 to 20 of 215

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5937537copy number variation1nstd209human GRCh38 chr17: 55,297,514-55,297,584 , GRCh37.p13 chr17: 53,374,875-53,374,945 HLF
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5530909copy number variation1nstd206human GRCh38 chr17: 55,270,841-55,271,774 , GRCh37.p13 chr17: 53,348,202-53,349,135 HLF
    nsv5530198copy number variation1nstd206human GRCh38 chr17: 55,270,052-55,270,306 , GRCh37.p13 chr17: 53,347,413-53,347,667 HLF
    nsv5521820copy number variation1nstd206human GRCh38 chr17: 55,301,018-55,301,070 , GRCh37.p13 chr17: 53,378,379-53,378,431 HLF
    nsv5328734copy number variation1nstd204human GRCh38.p13 chr17: 55,263,911-55,282,346 , GRCh37.p13 chr17: 53,341,272-53,359,707 HLF
    nsv5326768copy number variation1nstd204human GRCh38.p13 chr17: 55,313,857-55,313,944 , GRCh37.p13 chr17: 53,391,218-53,391,305 HLF
    nsv5323584copy number variation1nstd204human GRCh38.p13 chr17: 55,315,614-55,316,100 , GRCh37.p13 chr17: 53,392,975-53,393,461 HLF
    nsv5284364copy number variation1nstd204human GRCh38.p13 chr17: 55,262,971-55,281,118 , GRCh37.p13 chr17: 53,340,332-53,358,479 HLF
    nsv5026557copy number variation1nstd200human GRCh38 chr17: 55,305,940-55,306,067 , GRCh37.p13 chr17: 53,383,301-53,383,428 HLF
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4267506copy number variation1nstd166human GRCh37.p13 chr17: 53,346,057-53,346,348 , GRCh38.p12 chr17: 55,268,696-55,268,987 HLF
    nsv4264672copy number variation1nstd166human GRCh37.p13 chr17: 53,387,645-53,389,712 , GRCh38.p12 chr17: 55,310,284-55,312,351 HLF
    nsv4253213copy number variation1nstd166human GRCh37.p13 chr17: 53,348,170-53,349,057 , GRCh38.p12 chr17: 55,270,809-55,271,696 HLF
    nsv3920880copy number variation1nstd102humanPathogenic GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970 LOC107984983, LOC102724732, 85 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
    nsv3909511copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846 FOXK2, SOCS3-DT, 958 more genes
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