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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5950287insertion1nstd209human GRCh38 chr1: 150,348,460-150,348,460 , GRCh37.p13 chr1|NW_003871055.3: 7,163,873-7,163,873 , GRCh37.p13 chr1: 150,320,936-150,320,936 PRPF3
    nsv5873823copy number variation1nstd209human GRCh38 chr1: 150,323,124-150,323,221 , GRCh37.p13 chr1: 150,295,574-150,295,674 , GRCh37.p13 chr1|NW_003871055.3: 7,138,537-7,138,634 PRPF3
    nsv5422727copy number variation1nstd206human GRCh38 chr1: 150,318,621-150,321,161 , GRCh37.p13 chr1|NW_003871055.3: 7,134,034-7,136,574 , GRCh37.p13 chr1: 150,291,068-150,293,609 PRPF3
    nsv5409011mobile element insertion1nstd206human GRCh38 chr1: 150,338,457-150,338,505 , GRCh37.p13 chr1|NW_003871055.3: 7,153,870-7,153,918 , GRCh37.p13 chr1: 150,310,933-150,310,981 PRPF3
    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
    nsv5335059translocation1nstd200human GRCh37 chr1: 150,295,574-150,295,574 , GRCh37 chr1: 150,295,675-150,295,675 , GRCh38.p12 chr1: 150,323,124-150,323,124 , GRCh38.p12 chr1: 150,323,222-150,323,222 PRPF3
    nsv5071122mobile element insertion1nstd203human GRCh38 chr1: 150,349,882-150,349,902 , GRCh37.p13 chr1|NW_003871055.3: 7,165,295-7,165,315 , GRCh37.p13 chr1: 150,322,358-150,322,378 PRPF3
    nsv5066615mobile element insertion1nstd203human GRCh38 chr1: 150,334,622-150,334,636 , GRCh37.p13 chr1|NW_003871055.3: 7,150,035-7,150,049 , GRCh37.p13 chr1: 150,307,093-150,307,107 PRPF3
    nsv5062404mobile element insertion1nstd203human GRCh38 chr1: 150,331,171-150,331,206 , GRCh37.p13 chr1: 150,303,641-150,303,676 , GRCh37.p13 chr1|NW_003871055.3: 7,146,584-7,146,619 PRPF3
    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
    nsv4716373copy number variation1nstd195human GRCh37 chr1: 150,000,001-150,452,951 , GRCh38.p12 chr1: 150,028,043-150,480,475 , CA14, 15 more genes
    nsv4534934insertion1nstd166human GRCh37.p13 chr1: 150,325,796-150,325,796 , GRCh38.p12 chr1: 150,353,320-150,353,320 PRPF3
    nsv4453239copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,270,870-150,527,943 , GRCh38.p12 chr1: 150,298,445-150,555,467 MIR6878, PRPF3, 8 more genes
    nsv4064579copy number variation1nstd166human GRCh37.p13 chr1: 150,162,000-150,293,000 , GRCh38.p12 chr1: 150,189,740-150,320,552 PRPF3, CIART, 9 more genes
    nsv4057812copy number variation1nstd166human GRCh37.p13 chr1: 150,319,458-150,340,285 , GRCh38.p12 chr1: 150,346,982-150,367,809 PRPF3, RPRD2
    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
    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 HORMAD1, BCAN-AS1, 923 more genes
    nsv3895295copy number variation1nstd102humanLikely benign NCBI36 chr1: 148,453,763-148,804,107 , GRCh38 chr1: 150,214,843-150,565,007 , GRCh37 chr1: 150,187,139-150,537,483 MRPS21, RNU2-17P, 18 more genes
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