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Items: 1 to 20 of 154

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094197copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,032,813-110,034,382 , GRCh38.p12 chr12: 109,595,008-109,596,577 MVK
    nsv7094120copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,921,357-110,034,382 , GRCh38.p12 chr12: 109,483,552-109,596,577 MVK, RNU4-32P, 2 more genes
    nsv7093953copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,009,444-110,012,715 , GRCh38.p12 chr12: 109,571,639-109,574,910 MMAB, MVK
    nsv7059610inversion1nstd229human GRCh38 chr12: 109,590,672-109,603,238 , GRCh37.p13 chr12: 110,028,477-110,041,043 MVK
    nsv6931732copy number variation1nstd229human GRCh38 chr12: 108,914,683-113,697,537 , GRCh37.p13 chr12: 109,308,459-114,135,342 PTPN11, RPL31P49, 111 more genes
    nsv6928315copy number variation1nstd229human GRCh38 chr12: 109,591,582-109,601,254 , GRCh37.p13 chr12: 110,029,387-110,039,059 MVK
    nsv6927999copy number variation1nstd229human GRCh38 chr12: 109,573,886-109,574,580 , GRCh37.p13 chr12: 110,011,691-110,012,385 MVK, MMAB
    nsv6922947copy number variation1nstd229human GRCh38 chr12: 108,490,015-109,627,369 , GRCh37.p13 chr12: 108,883,792-110,065,174 RNU4-32P, LOC105369968, 30 more genes
    nsv6621489copy number variation1nstd224human GRCh37 chr12: 109,201,326-110,355,704 , GRCh38.p12 chr12: 108,807,550-109,917,899 FAM222A, MYO1H, 29 more genes
    nsv6488556copy number variation1nstd223human GRCh38 chr12: 109,591,582-109,601,249 , GRCh37.p13 chr12: 110,029,387-110,039,054 MVK
    nsv6479326copy number variation1nstd223human GRCh38 chr12: 109,573,601-109,574,200 , GRCh37.p13 chr12: 110,011,406-110,012,005 MMAB, MVK
    nsv6309460copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,013,783-110,013,970 , GRCh38.p12 chr12: 109,575,978-109,576,165 MVK
    nsv6309298copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,011,228-110,017,709 , GRCh38.p12 chr12: 109,573,423-109,579,904 MMAB, MVK
    nsv6291583copy number variation1nstd102humanPathogenic GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997 LOC105369964, LOC644746, 147 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132406copy number variation1nstd213human GRCh37 chr12: 108,420,000-110,500,001 , GRCh38.p12 chr12: 108,026,223-110,062,196 DAO, SART3, 47 more genes
    nsv5726632mobile element insertion1nstd211human GRCh38 chr12: 109,582,320-109,582,320 , GRCh37.p13 chr12: 110,020,125-110,020,125 MVK
    nsv5672560copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,032,813-110,034,402 , GRCh38.p12 chr12: 109,595,008-109,596,597 MVK
    nsv5503833copy number variation1nstd206human GRCh38 chr12: 109,585,515-109,604,595 , GRCh37.p13 chr12: 110,023,320-110,042,400 MVK
    nsv5379797translocation1nstd200human GRCh38 chr12: 109,586,001-109,586,001 , GRCh38 chr12: 109,584,270-109,584,270 , GRCh37.p13 chr12: 110,022,075-110,022,075 , GRCh37.p13 chr12: 110,023,806-110,023,806 MVK
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