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Items: 1 to 20 of 114

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5867988copy number variation1nstd209human GRCh38 chr1: 26,197,164-26,241,501 , GRCh37.p13 chr1: 26,523,655-26,567,992 CATSPER4, ZPLD2P, 2 more genes
    nsv5829808copy number variation1nstd209human GRCh38 chr1: 26,197,140-26,206,975 , GRCh37.p13 chr1: 26,523,631-26,533,466 CATSPER4
    nsv5692690mobile element insertion1nstd211human GRCh38 chr1: 26,196,161-26,196,161 , GRCh37.p13 chr1: 26,522,652-26,522,652 CATSPER4
    nsv5673254copy number variation1nstd102humanPathogenic GRCh37 chr1: 25,870,180-26,795,632 , GRCh38.p12 chr1: 25,543,689-26,469,141 LDLRAP1, AUNIP, 36 more genes
    nsv5615169insertion1nstd207human GRCh38 chr1: 26,194,990-26,194,990 , GRCh37.p13 chr1: 26,521,481-26,521,481 CATSPER4
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv5418585copy number variation1nstd206human GRCh38 chr1: 26,199,035-26,199,202 , GRCh37.p13 chr1: 26,525,526-26,525,693 CATSPER4
    nsv5072464mobile element insertion1nstd203human GRCh38 chr1: 26,193,063-26,193,078 , GRCh37.p13 chr1: 26,519,554-26,519,569 CATSPER4
    nsv4903228copy number variation1nstd200human GRCh38 chr1: 26,185,388-26,196,977 , GRCh37.p13 chr1: 26,511,879-26,523,468 CATSPER4, CNKSR1
    nsv4895475copy number variation1nstd200human GRCh38 chr1: 26,195,578-26,196,941 , GRCh37.p13 chr1: 26,522,069-26,523,432 CATSPER4
    nsv4895474copy number variation1nstd200human GRCh38 chr1: 26,193,449-26,207,846 , GRCh37.p13 chr1: 26,519,940-26,534,337 CATSPER4
    nsv4788562copy number variation1nstd200human GRCh37 chr1: 26,522,069-26,523,432 , GRCh38.p12 chr1: 26,195,578-26,196,941 CATSPER4
    nsv4788561copy number variation1nstd200human GRCh37 chr1: 26,519,940-26,534,337 , GRCh38.p12 chr1: 26,193,449-26,207,846 CATSPER4
    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
    nsv4536533insertion1nstd166human GRCh37.p13 chr1: 26,523,223-26,523,223 , GRCh38.p12 chr1: 26,196,732-26,196,732 CATSPER4
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4374244copy number variation1nstd173human GRCh37 chr1: 26,466,601-26,527,442 , GRCh38.p12 chr1: 26,140,110-26,200,951 FAM110D, C1orf232, 3 more genes
    nsv4371956copy number variation1nstd173human GRCh37 chr1: 26,511,312-26,568,117 , GRCh38.p12 chr1: 26,184,821-26,241,626 CNKSR1, CEP85, 3 more genes
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