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Items: 1 to 20 of 213

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099175copy number variation1nstd231human GRCh38.p12 chr1: 6,492,665-9,894,222 , GRCh37 chr1: 6,552,725-9,954,280 RERE, CA6, 70 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7058041inversion1nstd229human GRCh38 chr1: 1,845,355-9,534,096 , GRCh37.p13 chr1: 1,776,794-9,594,155 RPL37P9, TMEM52, 152 more genes
    nsv7054534inversion1nstd229human GRCh38 chr1: 2,972,403-10,562,308 , GRCh37.p13 chr1: 2,888,967-10,622,365 RN7SL731P, LOC105376682, 145 more genes
    nsv7052066inversion1nstd229human GRCh38 chr1: 4,379,650-7,782,927 , GRCh37.p13 chr1: 4,439,710-7,842,987 NPHP4, MIR4252, 46 more genes
    nsv7047983inversion1nstd229human GRCh38 chr1: 5,346,988-12,521,611 , GRCh37.p13 chr1: 5,407,048-12,581,655 THAP3, UBIAD1, 165 more genes
    nsv7046461inversion1nstd229human GRCh38 chr1: 5,352,168-12,521,473 , GRCh37.p13 chr1: 5,412,228-12,581,517 LINC02606, C1orf127, 165 more genes
    nsv6653435copy number variation1nstd229human GRCh38 chr1: 6,554,193-6,614,241 , GRCh37.p13 chr1: 6,614,253-6,674,301 KLHL21, NOL9, 5 more genes
    nsv6653221copy number variation1nstd229human GRCh38 chr1: 6,616,965-6,704,888 , GRCh37.p13 chr1: 6,677,025-6,764,948 THAP3, DNAJC11, 1 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6636950copy number variation1nstd102humanPathogenic GRCh37 chr1: 5,505,039-7,027,995 , GRCh38.p12 chr1: 5,444,979-6,967,935 RPL37P9, PHF13, 31 more genes
    nsv6315409copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-10,258,804 , GRCh38.p12 chr1: 914,086-10,198,746 VAMP3, CTNNBIP1, 245 more genes
    nsv6315340copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,250,285-7,943,864 , GRCh38.p12 chr1: 6,190,225-7,883,804 ICMT-DT, CAMTA1-DT, 33 more genes
    nsv6315170copy number variation1nstd102humanPathogenic GRCh37 chr1: 834,101-7,930,605 , GRCh38.p12 chr1: 898,721-7,870,545 PRDM16-DT, CAMTA1-AS1, 186 more genes
    nsv6313501copy number variation1nstd102humanUncertain significance GRCh37 chr1: 6,360,146-7,888,730 , GRCh38.p12 chr1: 6,300,086-7,828,670 CAMTA1-DT, RPL37P9, 25 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv6133657copy number variation1nstd213human GRCh37 chr1: 6,300,000-7,010,001 , GRCh38.p12 chr1: 6,239,940-6,949,941 ZBTB48, TNFRSF25, 21 more genes
    nsv6112685copy number variation1nstd102humannot provided GRCh37 chr1: 2,420,003-8,155,935 , GRCh38.p12 chr1: 2,488,564-8,095,875 LINC02780, C1orf174, 100 more genes
    nsv4685972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 762,080-7,309,686 , GRCh38.p12 chr1: 826,700-7,249,626 CDK11B, DFFB, 184 more genes
    nsv4674407copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-7,786,545 , GRCh38.p12 chr1: 914,086-7,726,485 MMP23B, RNF223, 183 more genes
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