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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6649769copy number variation1nstd229human GRCh38 chr1: 39,004,101-39,005,900 , GRCh37.p13 chr1: 39,469,773-39,471,572 AKIRIN1
    nsv6649768copy number variation1nstd229human GRCh38 chr1: 38,998,734-39,355,929 , GRCh37.p13 chr1: 39,464,406-39,821,601 RNU6-608P, RNA5SP44, 4 more genes
    nsv6649767copy number variation1nstd229human GRCh38 chr1: 38,994,937-39,009,351 , GRCh37.p13 chr1: 39,460,609-39,475,023 AKIRIN1
    nsv6649118copy number variation1nstd229human GRCh38 chr1: 38,998,530-38,998,988 , GRCh37.p13 chr1: 39,464,202-39,464,660 AKIRIN1
    nsv6545088inversion1nstd223human GRCh38 chr1: 38,994,117-38,994,498 , GRCh37.p13 chr1: 39,459,789-39,460,170 AKIRIN1
    nsv6537584inversion1nstd223human GRCh38 chr1: 38,995,761-38,996,249 , GRCh37.p13 chr1: 39,461,433-39,461,921 AKIRIN1
    nsv6316520copy number variation1nstd223human GRCh38 chr1: 38,985,022-38,989,530 , GRCh37.p13 chr1: 39,450,694-39,455,202 AKIRIN1
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5870674copy number variation1nstd209human GRCh38 chr1: 38,997,575-39,000,144 , GRCh37.p13 chr1: 39,463,247-39,465,816 AKIRIN1
    nsv5830308copy number variation1nstd209human GRCh38 chr1: 39,003,979-39,005,114 , GRCh37.p13 chr1: 39,469,651-39,470,786 AKIRIN1
    nsv5366848translocation1nstd200human GRCh38 chr1: 39,005,906-39,005,906 , GRCh38 chr6: 97,836,660-97,836,660 , GRCh37.p13 chr1: 39,471,578-39,471,578 , GRCh37.p13 chr6: 98,284,536-98,284,536 AKIRIN1
    nsv5361389translocation1nstd200human GRCh38 chr6: 97,836,673-97,836,673 , GRCh38 chr1: 38,991,306-38,991,306 , GRCh37.p13 chr1: 39,456,978-39,456,978 , GRCh37.p13 chr6: 98,284,549-98,284,549 AKIRIN1
    nsv5217816copy number variation1nstd204human GRCh37.p13 chr1: 39,352,573-39,602,972 , GRCh38.p13 chr1: 38,886,901-39,137,300 NDUFS5, MACF1, 6 more genes
    nsv4903383copy number variation1nstd200human GRCh38 chr1: 38,998,734-39,355,931 , GRCh37.p13 chr1: 39,464,406-39,821,603 RNA5SP44, NDUFS5, 4 more genes
    nsv4769331copy number variation1nstd102humanUncertain significance GRCh37 chr1: 39,340,597-40,603,856 , GRCh38.p12 chr1: 38,874,925-40,138,184 GJA9, BMP8B, 39 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
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