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Items: 1 to 20 of 68

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095486copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,275,666-161,279,695 , GRCh38.p12 chr1: 161,305,876-161,309,905 MPZ
    nsv4682769copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,275,464-161,279,705 , GRCh38.p12 chr1: 161,305,674-161,309,915 MPZ
    nsv4682789copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 161,275,464-161,277,224 , GRCh38.p12 chr1: 161,305,674-161,307,434 MPZ
    nsv5381124copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 161,275,597-161,275,598 , GRCh38 chr1: 161,305,807-161,305,808 MPZ
    nsv3894472copy number variation1nstd102humanBenign GRCh37 chr7: 29,432,479-29,470,861 , GRCh38.p12 chr7: 29,392,863-29,431,245 CHN2
    nsv7136966copy number variation1nstd102humanUncertain significance GRCh37 chr1: 161,277,215-161,279,763 , GRCh38.p12 chr1: 161,307,425-161,309,973 MPZ
    nsv3872236copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 161,279,434-161,299,373 , GRCh38 chr1: 161,309,667-161,329,606 MPZ, SDHC
    nsv3899405copy number variation1nstd102humanUncertain significance GRCh37 chr7: 29,253,743-29,522,760 , GRCh38.p12 chr7: 29,214,127-29,483,144 CHN2, NANOGP4
    nsv3872834copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,255,241-161,276,497 , GRCh38.p12 chr1: 161,285,451-161,306,707 MPZ, PCP4L1, 1 more genes
    nsv3892886copy number variation1nstd102humanBenign GRCh37 chr7: 29,209,361-29,535,998 , GRCh38.p12 chr7: 29,169,745-29,496,382 CHN2, CPVL, 2 more genes
    nsv3899278copy number variation1nstd102humanBenign GRCh37 chr7: 29,211,267-29,536,564 , GRCh38.p12 chr7: 29,171,651-29,496,948 CHN2, NANOGP4, 2 more genes
    nsv3898380copy number variation1nstd102humanUncertain significance GRCh37 chr7: 29,208,774-29,538,994 , GRCh38.p12 chr7: 29,169,158-29,499,378 CHN2, CHN2-AS1, 2 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
    nsv6290166copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,279,433-161,385,237 , GRCh38.p12 chr1: 161,309,643-161,415,447 MPZ, RRM2P2, 6 more genes
    nsv3919826copy number variation1nstd102humanPathogenic GRCh37 chr7: 54,185-159,075,079 , GRCh38 chr7: 54,185-159,282,390 , NCBI36 chr7: 149,268-158,767,840 CHN2, RNU6-438P, 2682 more genes
    nsv3888815copy number variation1nstd102humanPathogenic GRCh37 chr7: 12,258,147-140,494,267 , GRCh38.p12 chr7: 12,218,521-140,794,467 CHN2, LOC107986817, 2014 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 CRB1, STX6, 1608 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 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
    nsv3922885copy number variation1nstd102humanPathogenic GRCh38 chr7: 20,561,456-32,005,143 , GRCh37 chr7: 20,601,079-32,044,755 , NCBI36 chr7: 20,567,604-32,011,280 CHN2, IL6-AS1, 195 more genes
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