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Items: 1 to 20 of 80

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5880318copy number variation1nstd209human GRCh38 chr1: 114,776,458-114,779,139 , GRCh37.p13 chr1: 115,319,079-115,321,760 SIKE1
    nsv5873659copy number variation1nstd209human GRCh38 chr1: 114,780,215-114,780,447 , GRCh37.p13 chr1: 115,322,836-115,323,068 SIKE1
    nsv5869939copy number variation1nstd209human GRCh38 chr1: 114,774,372-114,776,344 , GRCh37.p13 chr1: 115,316,993-115,318,965 SIKE1
    nsv5869651copy number variation1nstd209human GRCh38 chr1: 114,779,284-114,780,108 , GRCh37.p13 chr1: 115,321,905-115,322,729 SIKE1
    nsv5827927copy number variation1nstd209human GRCh38 chr1: 114,769,530-114,774,388 , GRCh37.p13 chr1: 115,312,151-115,317,009 SIKE1
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5420789copy number variation1nstd206human GRCh38 chr1: 114,779,286-114,780,109 , GRCh37.p13 chr1: 115,321,907-115,322,730 SIKE1
    nsv5417065copy number variation1nstd206human GRCh38 chr1: 114,780,192-114,780,448 , GRCh37.p13 chr1: 115,322,813-115,323,069 SIKE1
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5353809translocation1nstd200human GRCh38 chr1: 114,780,581-114,780,581 , GRCh38 chr1: 217,773,891-217,773,891 , GRCh37.p13 chr1: 217,947,233-217,947,233 , GRCh37.p13 chr1: 115,323,202-115,323,202 SPATA17, SIKE1
    nsv5342172translocation1nstd200human GRCh37 chr1: 115,323,202-115,323,202 , GRCh37 chr1: 217,947,233-217,947,233 , GRCh38.p12 chr1: 217,773,891-217,773,891 , GRCh38.p12 chr1: 114,780,581-114,780,581 SPATA17, SIKE1
    nsv5339720translocation1nstd200human GRCh37 chr1: 115,322,730-115,322,730 , GRCh37 chr1: 115,321,907-115,321,907 , GRCh38.p12 chr1: 114,779,286-114,779,286 , GRCh38.p12 chr1: 114,780,109-114,780,109 SIKE1
    nsv4894441copy number variation1nstd200human GRCh38 chr1: 114,762,390-114,777,087 , GRCh37.p13 chr1: 115,305,011-115,319,708 SIKE1
    nsv4781139copy number variation1nstd200human GRCh37 chr1: 115,305,011-115,319,708 , GRCh38.p12 chr1: 114,762,390-114,777,087 SIKE1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4673999copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 114,024,461-116,189,135 , GRCh38.p12 chr1: 113,481,839-115,646,514 AMPD1, NGF, 43 more genes
    nsv4579111copy number variation2nstd183human GRCh37 chr1: 114,919,330-115,547,919 , GRCh38.p12 chr1: 114,376,708-115,005,298 , EIF2S2P5, 15 more genes
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