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Items: 17

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    Number of Variants: 17

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095484copy number variation1nstd102humanUncertain significance GRCh37 chr1: 160,309,679-160,320,060 , GRCh38.p12 chr1: 160,339,889-160,350,270 COPA, NCSTN
    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 COPA, CRB1, 1608 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 COPA, FMO4, 403 more genes
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 COPA, FCGR3B, 302 more genes
    nsv3906717copy number variation1nstd102humanPathogenic GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947 COPA, NOS1AP, 220 more genes
    nsv3884593copy number variation1nstd102humanPathogenic NCBI36 chr1: 157,610,062-160,185,096 , GRCh37.p13 chr1: 159,343,438-161,918,472 , GRCh38.p12 chr1: 159,373,648-161,948,682 COPA, OR10AE1P, 148 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 COPA, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 COPA, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 COPA, 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 COPA, 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 COPA, HORMAD1, 923 more genes
    nsv3890224copy number variation1nstd102humanPathogenic GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006 COPA, LOC101928596, 475 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 COPA, DCST1, 2428 more genes
    nsv6310595copy number variation2nstd102humanUncertain significance GRCh37 chr1: 158,581,054-162,750,036 , GRCh38.p12 chr1: 158,611,264-162,780,246 COPA, IGSF8, 193 more genes
    nsv4450321copy number variation1nstd102humanUncertain significance GRCh37 chr1: 159,808,188-161,011,163 , GRCh38.p12 chr1: 159,838,398-161,041,373 COPA, LOC107985216, 50 more genes
    nsv6637035copy number variation1nstd102humanUncertain significance GRCh37 chr1: 159,778,364-160,770,515 , GRCh38.p12 chr1: 159,808,574-160,800,725 COPA, PEX19, 43 more genes
    nsv6310733copy number variation2nstd102humanUncertain significance GRCh37 chr1: 160,090,676-160,327,063 , GRCh38.p12 chr1: 160,120,886-160,357,273 COPA, SUMO1P3, 11 more genes
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