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Items: 1 to 20 of 195

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5435527copy number variation1nstd206human GRCh38 chr1: 186,678,874-186,678,930 , GRCh37.p13 chr1: 186,648,006-186,648,062 PTGS2, PACERR
    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
    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
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 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 , LOC101060227, 1608 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, 1608 more genes
    nsv3909289copy number variation1nstd102humanPathogenic NCBI36 chr1: 180,373,484-185,166,880 , GRCh37 chr1: 182,106,861-186,900,257 , GRCh38 chr1: 182,137,726-186,931,125 LOC100271717, TSEN15, 79 more genes
    nsv3905741copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,002,040-199,694,025 , NCBI36 chr1: 177,268,663-197,960,648 , GRCh38 chr1: 179,032,905-199,724,897 SLC4A1APP2, EEF1A1P44, 240 more genes
    nsv3904393copy number variation1nstd102humanPathogenic GRCh37 chr1: 170,898,861-191,034,539 , GRCh38 chr1: 170,929,720-191,065,409 , NCBI36 chr1: 169,165,485-189,301,162 RPL18P2, KIAA0040, 302 more genes
    nsv3901149copy number variation1nstd102humanPathogenic NCBI36 chr1: 168,271,833-185,790,903 , GRCh37 chr1: 170,005,209-187,524,280 , GRCh38 chr1: 170,036,068-187,555,148 RGSL1, RNU6-157P, 296 more genes
    nsv3899087copy number variation1nstd102humanUncertain significance NCBI36 chr1: 184,213,654-185,948,488 , GRCh37 chr1: 185,947,031-187,681,865 , GRCh38 chr1: 185,977,899-187,712,734 FDPSP1, LOC100129274, 18 more genes
    nsv3898042copy number variation1nstd102humanPathogenic GRCh37 chr1: 171,009,116-186,845,089 , NCBI36 chr1: 169,275,740-185,111,712 , GRCh38 chr1: 171,039,975-186,875,957 XPR1, TEDDM1, 279 more genes
    nsv3896481copy number variation1nstd102humanPathogenic GRCh38 chr1: 176,595,962-196,301,688 , GRCh37 chr1: 176,565,098-196,270,818 , NCBI36 chr1: 174,831,721-194,537,441 RN7SL230P, RPS27AP5, 231 more genes
    nsv3894123copy number variation1nstd102humanUncertain significance GRCh38 chr1: 185,959,703-187,743,891 , GRCh37 chr1: 185,928,835-187,713,022 , NCBI36 chr1: 184,195,458-185,979,645 LINC01037, LOC105371656, 18 more genes
    nsv3889347copy number variation1nstd102humanPathogenic GRCh37 chr1: 185,644,663-221,698,833 , GRCh38.p12 chr1: 185,675,531-221,525,491 MIR1231, PTPN14, 543 more genes
    nsv3888143copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,413,479-201,764,737 , GRCh38.p12 chr1: 179,444,344-201,795,609 CSRP1-AS1, EEF1A1P44, 273 more genes
    nsv3886667copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,131,908-187,406,532 , GRCh38.p12 chr1: 173,162,769-187,437,400 CRYZL2P, RABGAP1L-AS1, 233 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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