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Items: 1 to 20 of 210

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7054861inversion1nstd229human GRCh38 chr1: 40,189,430-40,388,332 , GRCh37.p13 chr1: 40,655,102-40,854,004 RLF, ZMPSTE24, 4 more genes
    nsv7046734inversion1nstd229human GRCh38 chr1: 40,185,604-40,351,874 , GRCh37.p13 chr1: 40,651,276-40,817,546 RLF, ZMPSTE24, 3 more genes
    nsv6649897copy number variation1nstd229human GRCh38 chr1: 40,282,326-40,393,224 , GRCh37.p13 chr1: 40,747,998-40,858,896 ZMPSTE24, COL9A2, 2 more genes
    nsv6649876copy number variation1nstd229human GRCh38 chr1: 40,282,469-40,284,496 , GRCh37.p13 chr1: 40,748,141-40,750,168 ZMPSTE24
    nsv6649875copy number variation1nstd229human GRCh38 chr1: 40,267,331-40,267,640 , GRCh37.p13 chr1: 40,733,003-40,733,312 ZMPSTE24
    nsv6649871copy number variation1nstd229human GRCh38 chr1: 40,244,001-40,281,600 , GRCh37.p13 chr1: 40,709,673-40,747,272 ZMPSTE24, TMCO2
    nsv6649814copy number variation1nstd229human GRCh38 chr1: 40,286,701-40,287,300 , GRCh37.p13 chr1: 40,752,373-40,752,972 ZMPSTE24
    nsv6649379copy number variation1nstd229human GRCh38 chr1: 40,262,331-40,274,366 , GRCh37.p13 chr1: 40,728,003-40,740,038 ZMPSTE24
    nsv6649378copy number variation1nstd229human GRCh38 chr1: 40,262,039-40,280,641 , GRCh37.p13 chr1: 40,727,711-40,746,313 ZMPSTE24
    nsv6636519copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,758,393-41,009,559 , GRCh38.p12 chr1: 40,292,721-40,543,887 COL9A2, SMAP2, 7 more genes
    nsv6544738inversion1nstd223human GRCh38 chr1: 40,287,073-40,287,674 , GRCh37.p13 chr1: 40,752,745-40,753,346 ZMPSTE24
    nsv6540988inversion1nstd223human GRCh38 chr1: 40,258,964-40,259,508 , GRCh37.p13 chr1: 40,724,636-40,725,180 ZMPSTE24
    nsv6333417copy number variation1nstd223human GRCh38 chr1: 40,267,331-40,267,640 , GRCh37.p13 chr1: 40,733,003-40,733,312 ZMPSTE24
    nsv6318690copy number variation1nstd223human GRCh38 chr1: 40,283,506-40,284,478 , GRCh37.p13 chr1: 40,749,178-40,750,150 ZMPSTE24
    nsv6318658copy number variation1nstd223human GRCh38 chr1: 40,282,469-40,284,491 , GRCh37.p13 chr1: 40,748,141-40,750,163 ZMPSTE24
    nsv6316674copy number variation1nstd223human GRCh38 chr1: 40,286,620-40,286,931 , GRCh37.p13 chr1: 40,752,292-40,752,603 ZMPSTE24
    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
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
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