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Items: 1 to 20 of 294

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096217copy number variation1nstd102humanUncertain significance GRCh37 chr2: 179,296,824-179,914,668 , GRCh38.p12 chr2: 178,432,097-179,049,941 PRKRA, LOC105373766, 11 more genes
    nsv7096216copy number variation2nstd102humanUncertain significance GRCh37 chr2: 178,095,513-179,914,668 , GRCh38.p12 chr2: 177,230,785-179,049,941 CYCTP, LOC100130691, 29 more genes
    nsv7096107copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr2: 178,432,097-178,653,527 , GRCh37 chr2: 179,296,824-179,518,254 TTN, PRKRA, 6 more genes
    nsv6691102copy number variation1nstd229human GRCh38 chr2: 178,431,401-178,432,300 , GRCh37.p13 chr2: 179,296,128-179,297,027 PRKRA, CHROMR
    nsv6678746copy number variation1nstd229human GRCh38 chr2: 178,305,182-178,671,853 , GRCh37.p13 chr2: 179,169,909-179,536,580 PLEKHA3, PJVK, 7 more genes
    nsv6637115copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,143,352-180,999,636 , GRCh38.p12 chr2: 174,278,624-180,134,909 RNU6-5P, LOC101927073, 107 more genes
    nsv6627726copy number variation214nstd224human GRCh37 chr2: 179,300,979-179,315,726 , GRCh38.p12 chr2: 178,436,252-178,450,999 PRKRA, PJVK, 1 more genes
    nsv6627599copy number variation1nstd224human GRCh37 chr2: 179,287,834-179,334,511 , GRCh38.p12 chr2: 178,423,107-178,469,784 PRKRA, NUDCP2, 3 more genes
    nsv6627598copy number variation8nstd224human GRCh37 chr2: 179,287,834-179,315,726 , GRCh38.p12 chr2: 178,423,107-178,450,999 PJVK, CHROMR, 1 more genes
    nsv6627597copy number variation1nstd224human GRCh37 chr2: 179,201,047-179,605,559 , GRCh38.p12 chr2: 178,336,320-178,740,832 TTN, PRKRA, 7 more genes
    nsv6627285copy number variation2nstd224human GRCh37 chr2: 179,300,979-179,319,391 , GRCh38.p12 chr2: 178,436,252-178,454,664 PRKRA, NUDCP2, 2 more genes
    nsv6627284copy number variation3nstd224human GRCh37 chr2: 179,300,979-179,318,223 , GRCh38.p12 chr2: 178,436,252-178,453,496 CHROMR, PRKRA, 2 more genes
    nsv6548314inversion1nstd223human GRCh38 chr2: 177,986,552-178,841,553 , GRCh37.p13 chr2: 178,851,279-179,706,280 RNU6-629P, RNU5E-9P, 17 more genes
    nsv6548079inversion1nstd223human GRCh38 chr2: 178,157,654-187,669,944 , GRCh37.p13 chr2: 179,022,381-188,534,671 RNU7-104P, RN7SKP42, 90 more genes
    nsv6354497copy number variation1nstd223human GRCh38 chr2: 178,444,630-178,450,119 , GRCh37.p13 chr2: 179,309,357-179,314,846 PJVK, PRKRA
    nsv6348888copy number variation1nstd223human GRCh38 chr2: 178,431,401-178,432,300 , GRCh37.p13 chr2: 179,296,128-179,297,027 CHROMR, PRKRA
    nsv6347091copy number variation1nstd223human GRCh38 chr2: 178,447,584-178,450,239 , GRCh37.p13 chr2: 179,312,311-179,314,966 PJVK, PRKRA
    nsv6344492copy number variation1nstd223human GRCh38 chr2: 178,450,411-178,450,965 , GRCh37.p13 chr2: 179,315,138-179,315,692 PJVK, PRKRA
    nsv6342955copy number variation1nstd223human GRCh38 chr2: 178,432,254-178,436,144 , GRCh37.p13 chr2: 179,296,981-179,300,871 PRKRA, CHROMR
    nsv6340256copy number variation1nstd223human GRCh38 chr2: 178,443,502-178,444,421 , GRCh37.p13 chr2: 179,308,229-179,309,148 PRKRA
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