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Items: 1 to 20 of 255

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137191copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,957,148-6,553,454 , GRCh38.p12 chr1: 2,025,709-6,493,394 LOC102724429, TNFRSF14, 86 more genes
    nsv7099174copy number variation1nstd231human GRCh38.p12 chr1: 3,752,749-6,208,083 , GRCh37 chr1: 3,669,313-6,268,143 DFFB, RPL22, 27 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
    nsv7055732inversion1nstd229human GRCh38 chr1: 6,084,616-6,255,325 , GRCh37.p13 chr1: 6,144,676-6,315,385 ICMT, RNF207, 7 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
    nsv7040434inversion1nstd229human GRCh38 chr1: 6,084,606-6,255,340 , GRCh37.p13 chr1: 6,144,666-6,315,400 CHD5, GPR153, 7 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
    nsv6536999inversion1nstd223human GRCh38 chr1: 6,084,606-6,255,340 , GRCh37.p13 chr1: 6,144,666-6,315,400 RPL22, KCNAB2, 7 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
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 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
    nsv5718580mobile element insertion2nstd211human GRCh38 chr1: 6,220,809-6,220,809 , GRCh37.p13 chr1: 6,280,869-6,280,869 ICMT, RNF207
    nsv5210711mobile element deletion1nstd204human GRCh37.p13 chr1: 6,264,010-6,264,351 , GRCh38.p13 chr1: 6,203,950-6,204,291 , RNF207, 1 more genes
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