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Items: 1 to 20 of 99

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7056211inversion1nstd229human GRCh38 chr1: 143,881,700-152,159,818 , GRCh37.p13 chr1|NW_003871055.3: 697,113-7,283,150 , PDIA3P1, 333 more genes
    nsv7046833inversion1nstd229human GRCh37.p13 chr1|NW_003871055.3: 6,618,859-6,664,070 , GRCh38 chr1: 149,803,446-149,848,657 , GRCh37.p13 chr1: 149,775,002-149,820,224 H2BC19P, H3C13, 5 more genes
    nsv6296875copy number variation1nstd186human GRCh37 chr1: 149,783,555-149,792,142 , GRCh38.p12 chr1: 149,812,000-149,820,587 H3C13, H2BC18
    nsv6133732copy number variation1nstd213human GRCh37 chr1: 149,750,000-153,310,001 , GRCh38.p12 chr1: 149,778,444-153,337,525 , CTSK, 183 more genes
    nsv5828343copy number variation1nstd209human GRCh37.p13 chr1|NW_003871055.3: 6,595,690-6,631,896 , GRCh38 chr1: 149,780,277-149,816,483 , GRCh37.p13 chr1: 149,751,833-149,788,037 FCGR1A, H2BC18, 1 more genes
    nsv5426258copy number variation1nstd206human GRCh38 chr1: 149,812,000-149,820,587 , GRCh37.p13 chr1|NW_003871055.3: 6,627,413-6,636,000 , GRCh37.p13 chr1: 149,783,555-149,792,142 H2BC18, H3C13
    nsv5421829copy number variation1nstd206human GRCh38 chr1: 149,801,800-149,822,587 , GRCh37.p13 chr1|NW_003871055.3: 6,617,213-6,638,000 , GRCh37.p13 chr1: 149,773,356-149,794,142 H2BC18, H3C13
    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
    nsv5207690copy number variation1nstd204human GRCh38.p13 chr1: 149,810,379-149,813,294 , GRCh37.p13 chr1|NW_003871055.3: 6,625,792-6,628,707 , GRCh37.p13 chr1: 149,781,934-149,784,849 H3C13, H2BC18
    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
    nsv4709264copy number variation1nstd195human GRCh37 chr1: 149,781,401-149,788,601 , GRCh38.p12 chr1: 149,809,846-149,817,047 H2BC18, H3C13
    nsv4058070copy number variation1nstd166human GRCh37.p13 chr1: 149,751,000-149,793,000 , GRCh38.p12 chr1: 149,779,444-149,821,445 FCGR1A, H2BC18, 1 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
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3168056copy number variation1nstd158human GRCh38.p12 chr1: 84,243,714-179,997,709 , GRCh37 chr1: 84,709,397-179,966,844 , ABCA4, 1909 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
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