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Items: 1 to 20 of 435

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7055902inversion1nstd229human GRCh38 chr1: 36,155,822-36,482,474 , GRCh37.p13 chr1: 36,621,423-36,948,075 UBE2V2P4, RNU4-27P, 13 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7040332inversion1nstd229human GRCh38 chr1: 34,936,903-38,057,517 , GRCh37.p13 chr1: 35,402,504-38,523,189 MAP7D1, RPL12P45, 83 more genes
    nsv6649474copy number variation1nstd229human GRCh38 chr1: 36,300,712-36,301,023 , GRCh37.p13 chr1: 36,766,313-36,766,624 THRAP3
    nsv6649472copy number variation1nstd229human GRCh38 chr1: 36,233,338-36,250,640 , GRCh37.p13 chr1: 36,698,939-36,716,241 UBE2V2P4, THRAP3
    nsv6649471copy number variation1nstd229human GRCh38 chr1: 36,230,606-36,231,887 , GRCh37.p13 chr1: 36,696,207-36,697,488 THRAP3
    nsv6649470copy number variation1nstd229human GRCh38 chr1: 36,228,982-36,233,749 , GRCh37.p13 chr1: 36,694,583-36,699,350 THRAP3
    nsv6649466copy number variation1nstd229human GRCh38 chr1: 36,062,801-36,545,100 , GRCh37.p13 chr1: 36,528,402-37,010,701 ADPRS, TEKT2, 18 more genes
    nsv6649462copy number variation1nstd229human GRCh38 chr1: 35,975,501-36,714,600 , GRCh37.p13 chr1: 36,441,102-37,180,201 LSM10, LOC105378648, 22 more genes
    nsv6649325copy number variation1nstd229human GRCh38 chr1: 36,268,790-36,277,542 , GRCh37.p13 chr1: 36,734,391-36,743,143 THRAP3
    nsv6649323copy number variation1nstd229human GRCh38 chr1: 36,234,143-36,259,568 , GRCh37.p13 chr1: 36,699,744-36,725,169 UBE2V2P4, THRAP3
    nsv6649290copy number variation1nstd229human GRCh38 chr1: 36,113,925-36,364,964 , GRCh37.p13 chr1: 36,579,526-36,830,565 COL8A2, RN7SL131P, 7 more genes
    nsv6648806copy number variation1nstd229human GRCh38 chr1: 36,235,030-36,237,766 , GRCh37.p13 chr1: 36,700,631-36,703,367 THRAP3
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 EFCAB14P1, SNORA63C, 56 more genes
    nsv6553643inversion1nstd223human GRCh38 chr1: 36,297,626-36,298,115 , GRCh37.p13 chr1: 36,763,227-36,763,716 THRAP3
    nsv6551337inversion1nstd223human GRCh38 chr1: 36,233,053-36,233,476 , GRCh37.p13 chr1: 36,698,654-36,699,077 THRAP3
    nsv6547758inversion1nstd223human GRCh38 chr1: 36,267,652-36,269,041 , GRCh37.p13 chr1: 36,733,253-36,734,642 THRAP3
    nsv6547434inversion1nstd223human GRCh38 chr1: 36,222,442-36,222,996 , GRCh37.p13 chr1: 36,688,043-36,688,597 THRAP3
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