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Items: 1 to 20 of 171

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885892copy number variation1nstd209human GRCh38 chr1: 109,463,698-109,465,594 , GRCh37.p13 chr1: 110,006,320-110,008,216 SYPL2
    nsv5827911copy number variation1nstd209human GRCh38 chr1: 109,463,870-109,465,621 , GRCh37.p13 chr1: 110,006,492-110,008,243 SYPL2
    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
    nsv4894403copy number variation1nstd200human GRCh38 chr1: 109,481,431-109,481,738 , GRCh37.p13 chr1: 110,024,053-110,024,360 SYPL2
    nsv4894401copy number variation1nstd200human GRCh38 chr1: 109,385,158-109,480,592 , GRCh37.p13 chr1: 109,927,780-110,023,214 SORT1, PSMA5, 1 more genes
    nsv4781107copy number variation1nstd200human GRCh37 chr1: 109,927,780-110,023,214 , GRCh38.p12 chr1: 109,385,158-109,480,592 SORT1, PSMA5, 1 more genes
    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
    nsv4533110insertion1nstd166human GRCh37.p13 chr1: 110,014,921-110,014,921 , GRCh38.p12 chr1: 109,472,299-109,472,299 SYPL2
    nsv4458600mobile element insertion1nstd166human GRCh37.p13 chr1: 110,024,038-110,024,038 , GRCh38.p12 chr1: 109,481,416-109,481,416 SYPL2
    nsv4453642copy number variation1nstd102humannot provided GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875 PSMA5, GSTM1, 79 more genes
    nsv4436700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583 ALX3, AMPD2, 89 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4067597copy number variation1nstd166human GRCh37.p13 chr1: 109,977,364-110,184,878 , GRCh38.p12 chr1: 109,434,742-109,642,256 SYPL2, CYB561D1, 9 more genes
    nsv4064477copy number variation1nstd166human GRCh37.p13 chr1: 109,927,780-110,023,215 , GRCh38.p12 chr1: 109,385,158-109,480,593 SYPL2, PSMA5, 1 more genes
    nsv4057521copy number variation1nstd166human GRCh37.p13 chr1: 110,024,038-110,024,360 , GRCh38.p12 chr1: 109,481,416-109,481,738 SYPL2
    nsv3956748insertion1nstd168human GRCh38 chr1: 109,467,412-109,468,616 , GRCh37.p13 chr1: 110,010,034-110,011,238 SYPL2
    nsv3920130copy number variation1nstd102humanPathogenic NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637 LOC105378898, LOC105378901, 166 more genes
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