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Items: 1 to 20 of 120

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    nsv4903223copy number variation1nstd200human GRCh38 chr1: 25,857,908-25,865,053 , GRCh37.p13 chr1: 26,184,399-26,191,544 PAQR7, AUNIP
    nsv4895451copy number variation1nstd200human GRCh38 chr1: 25,844,121-25,844,202 , GRCh37.p13 chr1: 26,170,612-26,170,693 AUNIP
    nsv4780711copy number variation1nstd200human GRCh37 chr1: 26,184,399-26,191,544 , GRCh38.p12 chr1: 25,857,908-25,865,053 PAQR7, AUNIP
    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
    nsv4684184copy number variation1nstd102humanUncertain significance GRCh37 chr1: 25,872,197-26,274,156 , GRCh38.p12 chr1: 25,545,706-25,947,665 MAN1C1, MTFR1L, 10 more genes
    nsv4567396mobile element insertion1nstd166human GRCh37.p13 chr1: 26,157,338-26,157,338 , GRCh38.p12 chr1: 25,830,847-25,830,847 MTFR1L, AUNIP
    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
    nsv4047155copy number variation1nstd166human GRCh37.p13 chr1: 26,185,000-26,191,000 , GRCh38.p12 chr1: 25,858,509-25,864,509 AUNIP, PAQR7
    nsv3904673copy number variation1nstd102humanUncertain significance NCBI36 chr1: 25,568,289-26,139,868 , GRCh37 chr1: 25,695,702-26,267,281 , GRCh38 chr1: 25,369,211-25,940,790 MIR3917, MTFR1L, 13 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 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
    nsv1488128short tandem repeat3nstd128human GRCh37 chr1: 26,186,371-26,186,382 , GRCh38.p12 chr1: 25,859,880-25,859,891 AUNIP, PAQR7
    nsv1488127short tandem repeat1nstd128human GRCh37 chr1: 26,180,705-26,180,733 , GRCh38.p12 chr1: 25,854,214-25,854,242 AUNIP
    nsv1488126short tandem repeat6nstd128human GRCh37 chr1: 26,178,940-26,178,965 , GRCh38.p12 chr1: 25,852,449-25,852,474 AUNIP
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