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Items: 1 to 20 of 28

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RSC1A1, RPL9P11, 466 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 RSC1A1, LOC107985467, 386 more genes
    nsv3900501copy number variation1nstd102humanPathogenic GRCh38 chr1: 3,006,193-17,688,934 , GRCh37 chr1: 2,922,757-18,015,429 , NCBI36 chr1: 2,912,617-17,888,016 RSC1A1, MFFP1, 364 more genes
    nsv3900236copy number variation1nstd102humanPathogenic GRCh38 chr1: 5,363,826-18,360,302 , GRCh37 chr1: 5,423,886-18,686,796 , NCBI36 chr1: 5,323,746-18,559,383 RSC1A1, PDPN, 333 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 RSC1A1, GPR157, 313 more genes
    nsv3905483copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,303,641-15,799,093 , NCBI36 chr1: 6,286,288-15,998,175 , GRCh37 chr1: 6,363,701-16,125,588 RSC1A1, VPS13D, 240 more genes
    nsv3897535copy number variation1nstd102humanPathogenic NCBI36 chr1: 9,017,317-16,640,547 , GRCh38 chr1: 9,034,671-16,441,465 , GRCh37 chr1: 9,094,730-16,767,960 RSC1A1, RNU6-771P, 206 more genes
    nsv3891889copy number variation1nstd102humanPathogenic GRCh38 chr1: 9,428,538-15,815,791 , NCBI36 chr1: 9,411,184-16,014,873 , GRCh37 chr1: 9,488,597-16,142,286 RSC1A1, PRAMEF31P, 178 more genes
    nsv3892730copy number variation1nstd102humanPathogenic GRCh37 chr1: 10,681,833-16,847,204 , GRCh38 chr1: 10,621,776-16,520,709 , NCBI36 chr1: 10,604,420-16,719,791 RSC1A1, DHRS3, 170 more genes
    nsv3895493copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,791,683-16,621,582 , GRCh37 chr1: 10,869,096-16,748,995 , GRCh38 chr1: 10,809,039-16,422,500 RSC1A1, PRAMEF36P, 163 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 RSC1A1, EMC1-AS1, 166 more genes
    nsv3898313copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,247,042-15,979,922 , GRCh38 chr1: 10,264,397-15,780,840 , GRCh37 chr1: 10,324,455-16,107,335 RSC1A1, SRM, 152 more genes
    nsv3913790copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,370,726-15,979,918 , GRCh37.p13 chr1: 10,448,139-16,107,331 , GRCh38.p12 chr1: 10,388,082-15,780,836 RSC1A1, PRAMEF15, 149 more genes
    nsv3897811copy number variation1nstd102humanPathogenic GRCh37 chr1: 11,181,682-16,650,993 , NCBI36 chr1: 11,104,269-16,523,580 , GRCh38 chr1: 11,121,625-16,324,498 RSC1A1, DNAJC16, 150 more genes
    nsv3906823copy number variation1nstd102humanPathogenic NCBI36 chr1: 12,707,339-16,233,870 , GRCh38 chr1: 12,724,785-16,034,788 , GRCh37 chr1: 12,784,752-16,361,283 RSC1A1, AGMAT, 90 more genes
    nsv3886197copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,764,961-16,063,358 , GRCh38.p12 chr1: 15,438,465-15,736,863 RSC1A1, SCARNA21B, 13 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 RSC1A1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 RSC1A1, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 RSC1A1, RNU1-153P, 4887 more genes
    nsv3908546copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,554,885-16,056,011 , GRCh37 chr1: 6,614,945-16,382,506 , NCBI36 chr1: 6,537,532-16,255,093 RSC1A1, LOC105376717, 244 more genes
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