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Items: 19

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    Number of Variants: 19

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095759copy number variation1nstd102humanPathogenic GRCh37 chr1: 156,554,669-156,568,838 , GRCh38.p12 chr1: 156,584,877-156,599,046 TTC24, NAXE, 1 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 TTC24, CRB1, 1608 more genes
    nsv3882925copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,636,337-158,024,499 , GRCh38.p12 chr1: 155,666,546-158,054,709 TTC24, SH2D2A, 88 more genes
    nsv6310593copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,581,953-156,851,434 , GRCh38.p12 chr1: 155,612,162-156,881,642 TTC24, MIR9-1, 62 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 TTC24, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 TTC24, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 TTC24, RNU1-153P, 4887 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 TTC24, LOC101060227, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 TTC24, HORMAD1, 923 more genes
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 TTC24, SMU1P1, 152 more genes
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874 TTC24, ARHGEF2-AS2, 131 more genes
    nsv3891439copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 154,492,910-154,918,279 , GRCh37 chr1: 156,226,286-156,651,655 , GRCh38 chr1: 156,256,495-156,681,863 TTC24, MEF2D, 17 more genes
    nsv3870644copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670 TTC24, ADAR, 145 more genes
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 TTC24, ADAR, 136 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 TTC24, DCST1, 2428 more genes
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 TTC24, PRPF3, 352 more genes
    nsv6310523copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,141,761-156,851,434 , GRCh38.p12 chr1: 154,169,285-156,881,642 TTC24, MIR555, 135 more genes
    nsv4452342copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,770,505-156,652,136 , GRCh38.p12 chr1: 155,800,714-156,682,344 TTC24, NES, 43 more genes
    nsv3873818copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,999,570-156,844,432 , GRCh38.p12 chr1: 156,029,779-156,874,640 TTC24, LMNA, 38 more genes
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