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Items: 1 to 20 of 405

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv7051514inversion1nstd229human GRCh38 chr2: 189,746,868-189,758,553 , GRCh37.p13 chr2: 190,611,594-190,623,279 OSGEPL1, ANKAR
    nsv6697964copy number variation1nstd229human GRCh38 chr2: 189,606,301-189,745,800 , GRCh37.p13 chr2: 190,471,027-190,610,526 ASNSD1, ASDURF, 3 more genes
    nsv6697639copy number variation1nstd229human GRCh38 chr2: 189,673,415-189,679,731 , GRCh37.p13 chr2: 190,538,141-190,544,457 LOC105373793, ANKAR
    nsv6696981copy number variation1nstd229human GRCh38 chr2: 189,683,901-189,743,000 , GRCh37.p13 chr2: 190,548,627-190,607,726 ANKAR
    nsv6696493copy number variation1nstd229human GRCh38 chr2: 189,692,608-189,695,809 , GRCh37.p13 chr2: 190,557,334-190,560,535 ANKAR
    nsv6695550copy number variation1nstd229human GRCh38 chr2: 189,677,844-189,678,080 , GRCh37.p13 chr2: 190,542,570-190,542,806 ANKAR
    nsv6692501copy number variation1nstd229human GRCh38 chr2: 189,698,066-189,701,106 , GRCh37.p13 chr2: 190,562,792-190,565,832 ANKAR
    nsv6688480copy number variation1nstd229human GRCh38 chr2: 189,722,536-189,734,265 , GRCh37.p13 chr2: 190,587,262-190,598,991 ANKAR
    nsv6680798copy number variation1nstd229human GRCh38 chr2: 189,752,801-189,765,900 , GRCh37.p13 chr2: 190,617,527-190,630,626 ORMDL1, ANKAR, 2 more genes
    nsv6679945copy number variation1nstd229human GRCh38 chr2: 189,674,526-189,674,559 , GRCh37.p13 chr2: 190,539,252-190,539,285 LOC105373793, ANKAR
    nsv6679488copy number variation1nstd229human GRCh38 chr2: 189,643,901-189,695,100 , GRCh37.p13 chr2: 190,508,627-190,559,826 LOC105373793, ANKAR, 2 more genes
    nsv6678780copy number variation1nstd229human GRCh38 chr2: 189,761,132-189,762,790 , GRCh37.p13 chr2: 190,625,858-190,627,516 ORMDL1, ANKAR, 2 more genes
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6627799copy number variation1nstd224human GRCh37 chr2: 190,535,429-190,571,797 , GRCh38.p12 chr2: 189,670,703-189,707,071 ANKAR, LOC105373793, 1 more genes
    nsv6627798copy number variation1nstd224human GRCh37 chr2: 190,482,320-190,608,172 , GRCh38.p12 chr2: 189,617,594-189,743,446 LOC105373793, ANKAR, 2 more genes
    nsv6627743copy number variation1nstd224human GRCh37 chr2: 190,521,054-191,071,369 , GRCh38.p12 chr2: 189,656,328-190,206,643 MSTN, LOC100421409, 14 more genes
    nsv6555017inversion1nstd223human GRCh38 chr2: 189,751,504-189,752,079 , GRCh37.p13 chr2: 190,616,230-190,616,805 ANKAR, OSGEPL1
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