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Items: 1 to 20 of 42

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4451961copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,524,101-10,640,226 , GRCh38.p12 chr1: 10,464,044-10,580,169 DFFA, PEX14
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 DFFA, RPL9P11, 466 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 DFFA, 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 DFFA, MFFP1, 364 more genes
    nsv3873030copy number variation1nstd102humanPathogenic GRCh37 chr1: 746,608-15,077,159 , GRCh38.p12 chr1: 811,228-14,750,663 DFFA, RN7SL451P, 376 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 DFFA, PDPN, 333 more genes
    nsv3888433copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-12,699,337 , GRCh38.p12 chr1: 82,154-12,639,316 DFFA, AURKAIP1, 356 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 DFFA, GPR157, 313 more genes
    nsv4436105copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-11,784,118 , GRCh38.p12 chr1: 82,154-11,724,061 DFFA, PARK7, 325 more genes
    nsv3899046copy number variation1nstd102humanPathogenic GRCh38 chr1: 844,347-12,470,133 , GRCh37 chr1: 779,727-12,530,188 , NCBI36 chr1: 769,590-12,452,775 DFFA, PRKCZ-DT, 315 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 DFFA, VWA1, 311 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 DFFA, VPS13D, 240 more genes
    nsv3885408copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,558,588-13,187,457 , GRCh38.p12 chr1: 4,498,528-13,119,984 DFFA, PRAMEF2, 198 more genes
    nsv3903444copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,958,499-13,178,528 , NCBI36 chr1: 4,858,359-13,101,115 , GRCh38 chr1: 4,898,439-13,111,056 DFFA, NPPA-AS1, 195 more genes
    nsv3896270copy number variation1nstd102humanPathogenic GRCh38 chr1: 4,898,439-12,911,913 , NCBI36 chr1: 4,858,359-12,894,344 , GRCh37 chr1: 4,958,499-12,971,757 DFFA, LINC01647, 185 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 DFFA, 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 DFFA, PRAMEF31P, 178 more genes
    nsv3891532copy number variation1nstd102humanPathogenic NCBI36 chr1: 7,147,683-13,101,115 , GRCh37 chr1: 7,225,096-13,178,528 , GRCh38 chr1: 7,165,036-13,111,056 DFFA, RNU6ATAC18P, 159 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 DFFA, 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 DFFA, PRAMEF15, 149 more genes
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