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Items: 1 to 20 of 596

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148149copy number variation1nstd102humanPathogenic GRCh38 chr1: 145,822,587-146,064,587 , GRCh37.p13 chr1|NW_003871055.3: 2,638,000-2,880,000 , GRCh37.p13 chr1: 145,370,415-145,612,526 TXNIP, PEX11B, 22 more genes
    nsv7148064copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,365,275-145,826,979 , GRCh38.p12 chr1: 145,608,084-146,069,727 ANKRD34A, RNVU1-6, 26 more genes
    nsv7148054copy number variation1nstd102humanPathogenic GRCh37 chr1: 142,535,935-157,648,813 , GRCh38.p12 chr1: 120,175,847-149,601,750 , TRN-GTT12-1, 266 more genes
    nsv7137200copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,382,123-145,792,051 , GRCh38.p12 chr1: 145,642,989-146,052,881 PDZK1, LOC107985593, 24 more genes
    nsv7099228copy number variation1nstd231human GRCh38.p12 chr1: 145,741,225-146,028,213 , GRCh37 chr1: 145,406,788-145,693,862 ITGA10, PEX11B, 15 more genes
    nsv7098839copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,405,854-147,597,284 , GRCh38.p12 chr1: 145,598,009-149,077,123 CCT8P1, LINC01719, 120 more genes
    nsv7098747copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,414,780-145,826,931 , GRCh38.p12 chr1: 145,608,132-146,020,233 TXNIP, CD160, 19 more genes
    nsv7098724copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,397,357-148,344,744 , GRCh38.p12 chr1: 144,536,526-148,549,211 , LOC105371217, 150 more genes
    nsv7056211inversion1nstd229human GRCh38 chr1: 143,881,700-152,159,818 , GRCh37.p13 chr1|NW_003871055.3: 697,113-7,283,150 , PDIA3P1, 333 more genes
    nsv7053757inversion1nstd229human GRCh38 chr1: 145,861,640-146,012,316 , GRCh37.p13 chr1|NW_003871055.3: 2,677,053-2,827,729 , GRCh37.p13 chr1: 145,422,688-145,573,428 RBM8A, LIX1L-AS1, 9 more genes
    nsv7045394inversion1nstd229human GRCh38 chr1: 143,732,174-147,339,264 , GRCh37.p13 chr1|NW_003871055.3: 547,587-4,154,677 , MIR6736, 130 more genes
    nsv7045117inversion1nstd229human GRCh38 chr1: 143,671,956-145,963,983 , GRCh37.p13 chr1|NW_003871055.3: 487,369-2,779,396 , GPR89A, 96 more genes
    nsv6641566copy number variation1nstd229human GRCh38 chr1: 145,796,670-146,049,420 , GRCh37.p13 chr1|NW_003871055.3: 2,612,083-2,864,833 , GRCh37.p13 chr1: 145,385,582-145,638,408 ANKRD34A, RNF115, 19 more genes
    nsv6641458copy number variation1nstd229human GRCh38 chr1: 145,834,456-145,939,172 , GRCh37.p13 chr1: 145,495,920-145,600,656 , GRCh37.p13 chr1|NW_003871055.3: 2,649,869-2,754,585 PEX11B, MIR6736, 10 more genes
    nsv6636744copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,493,131-147,831,043 , GRCh38.p12 chr1: 145,430,980-148,358,916 PDZK1, ANKRD34A, 102 more genes
    nsv6634386copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,626,685-147,597,284 , GRCh38.p12 chr1: 145,430,980-148,125,001 LOC391092, NBPF10, 84 more genes
    nsv6634368copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,387,023-145,764,679 , GRCh38.p12 chr1: 145,670,380-146,047,980 TRK-CTT2-1, TXNIP, 22 more genes
    nsv6634349copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,157,447-148,016,122 , GRCh38.p12 chr1: 144,536,526-149,492,442 , TRN-GTT10-1, 170 more genes
    nsv6625831copy number variation2nstd224human GRCh37 chr1: 145,383,239-145,765,425 , GRCh38.p12 chr1: 145,669,634-146,051,762 TXNIP, CD160, 24 more genes
    nsv6625830copy number variation1nstd224human GRCh37 chr1: 145,383,239-145,765,424 , GRCh38.p12 chr1: 145,669,635-146,051,762 ITGA10, RBM8A, 24 more genes
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