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Items: 1 to 20 of 156

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5425996copy number variation1nstd206human GRCh38 chr1: 161,205,293-161,457,950 , GRCh37.p13 chr1: 161,175,083-161,427,740 TRN-GTT2-2, CFAP126, 32 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5381124copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 161,275,597-161,275,598 , GRCh38 chr1: 161,305,807-161,305,808 MPZ
    nsv5215855copy number variation1nstd204human GRCh38.p13 chr1: 161,030,901-161,306,800 , GRCh37.p13 chr1: 161,000,691-161,276,590 TOMM40L, B4GALT3, 23 more genes
    nsv5072003mobile element insertion1nstd203human GRCh38 chr1: 161,309,552-161,309,566 , GRCh37.p13 chr1: 161,279,342-161,279,356 MPZ
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4683645copy number variation1nstd102humanUncertain significance GRCh37 chr1: 160,786,670-161,332,308 , GRCh38.p12 chr1: 160,816,880-161,362,518 PCP4L1, NECTIN4, 32 more genes
    nsv4682789copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 161,275,464-161,277,224 , GRCh38.p12 chr1: 161,305,674-161,307,434 MPZ
    nsv4682769copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,275,464-161,279,705 , GRCh38.p12 chr1: 161,305,674-161,309,915 MPZ
    nsv4674719copy number variation1nstd102humanUncertain significance GRCh37 chr1: 161,134,675-161,652,307 , GRCh38.p12 chr1: 161,164,885-161,682,517 NR1I3, TRG-GCC1-3, 63 more genes
    nsv4518029copy number variation1nstd166human GRCh37.p13 chr1: 160,818,699-161,386,000 , GRCh38.p12 chr1: 160,848,909-161,416,210 LOC101928372, LOC107985221, 37 more genes
    nsv4454668copy number variation1nstd102humanUncertain significance GRCh37 chr1: 161,257,930-161,344,485 , GRCh38.p12 chr1: 161,288,140-161,374,695 LOC107985221, SDHC, 2 more genes
    nsv4452657copy number variation1nstd102humanUncertain significance GRCh37 chr1: 160,744,174-162,583,871 , GRCh38.p12 chr1: 160,774,384-162,614,081 TRD-GTC2-2, KLHDC9, 104 more genes
    nsv4451433copy number variation1nstd102humanUncertain significance GRCh37 chr1: 161,134,612-161,422,225 , GRCh38.p12 chr1: 161,164,822-161,452,435 USP21, LOC102724602, 31 more genes
    nsv4451230copy number variation1nstd102humanUncertain significance GRCh37 chr1: 161,213,062-161,437,757 , GRCh38.p12 chr1: 161,243,272-161,467,967 LOC107985221, TRL-CAG1-4, 33 more genes
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4450213copy number variation1nstd102humanUncertain significance GRCh38 chr1: 160,816,880-161,362,443 , GRCh37 chr1: 160,786,670-161,332,233 ADAMTS4, TOMM40L, 32 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
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