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Items: 1 to 20 of 189

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5869404copy number variation1nstd209human GRCh38 chr1: 53,901,974-53,904,056 , GRCh37.p13 chr1: 54,367,647-54,369,729 DIO1
    nsv5830368copy number variation1nstd209human GRCh38 chr1: 53,901,983-53,904,082 , GRCh37.p13 chr1: 54,367,656-54,369,755 DIO1
    nsv5425392copy number variation1nstd206human GRCh38 chr1: 53,901,976-53,904,057 , GRCh37.p13 chr1: 54,367,649-54,369,730 DIO1
    nsv5416836copy number variation1nstd206human GRCh38 chr1: 53,908,149-53,908,993 , GRCh37.p13 chr1: 54,373,822-54,374,666 DIO1
    nsv5382109copy number variation2nstd186human GRCh37 chr1: 54,367,649-54,369,730 , GRCh38.p12 chr1: 53,901,976-53,904,057 DIO1
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv4890230copy number variation1nstd200human GRCh38 chr1: 53,901,976-53,904,057 , GRCh37.p13 chr1: 54,367,649-54,369,730 DIO1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783281copy number variation1nstd200human GRCh37 chr1: 54,367,649-54,369,730 , GRCh38.p12 chr1: 53,901,976-53,904,057 DIO1
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 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
    nsv4661089copy number variation1nstd186human GRCh37 chr1: 54,367,638-54,369,718 , GRCh38.p12 chr1: 53,901,965-53,904,045 DIO1
    nsv4659566copy number variation1nstd186human GRCh37 chr1: 54,367,647-54,369,730 , GRCh38.p12 chr1: 53,901,974-53,904,057 DIO1
    nsv4650191copy number variation1nstd186human GRCh37 chr1: 54,367,648-54,369,730 , GRCh38.p12 chr1: 53,901,975-53,904,057 DIO1
    nsv4594570copy number variation1nstd183human GRCh37 chr1: 54,367,647-54,369,730 , GRCh38.p12 chr1: 53,901,974-53,904,057 DIO1
    nsv4594569copy number variation2nstd183human GRCh37 chr1: 54,367,638-54,369,718 , GRCh38.p12 chr1: 53,901,965-53,904,045 DIO1
    nsv4581875copy number variation1nstd183human GRCh37 chr1: 54,367,678-54,369,718 , GRCh38.p12 chr1: 53,902,005-53,904,045 DIO1
    nsv4581873copy number variation1nstd183human GRCh37 chr1: 54,004,078-54,571,989 , GRCh38.p12 chr1: 53,538,405-54,106,316 NDC1, COX7BP3, 12 more genes
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