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Items: 1 to 20 of 517

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    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
    nsv7045394inversion1nstd229human GRCh38 chr1: 143,732,174-147,339,264 , GRCh37.p13 chr1|NW_003871055.3: 547,587-4,154,677 , MIR6736, 130 more genes
    nsv6641466copy number variation1nstd229human GRCh38 chr1: 146,560,734-146,560,768 , GRCh37.p13 chr1|NT_167207.1: 394,230-394,264 , GRCh37.p13 chr1|NW_003871055.3: 3,376,147-3,376,181 HYDIN2
    nsv6641374copy number variation1nstd229human GRCh38 chr1: 146,806,601-146,807,200 , GRCh37.p13 chr1|NT_167207.1: 147,383-147,982 , GRCh37.p13 chr1|NW_003871055.3: 3,622,014-3,622,613 HYDIN2
    nsv6641373copy number variation1nstd229human GRCh38 chr1: 146,707,726-146,707,772 , GRCh37.p13 chr1|NW_003871055.3: 3,523,139-3,523,185 , GRCh37.p13 chr1|NT_167207.1: 247,242-247,288 HYDIN2
    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
    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
    nsv6335185copy number variation1nstd223human GRCh38 chr1: 146,788,701-146,789,900 , GRCh37.p13 chr1|NW_003871055.3: 3,604,114-3,605,313 , GRCh37.p13 chr1|NT_167207.1: 164,684-165,883 HYDIN2
    nsv6333880copy number variation1nstd223human GRCh38 chr1: 145,488,103-148,061,210 , GRCh37.p13 chr1|NW_003871055.3: 2,303,516-4,876,623 , TRR-CCT6-2, 79 more genes
    nsv6328157copy number variation1nstd223human GRCh38 chr1: 146,600,426-146,605,524 , GRCh37.p13 chr1|NT_167207.1: 349,485-354,583 , GRCh37.p13 chr1|NW_003871055.3: 3,415,839-3,420,937 HYDIN2
    nsv6317838copy number variation1nstd223human GRCh38 chr1: 146,694,401-146,697,200 , GRCh37.p13 chr1|NW_003871055.3: 3,509,814-3,512,613 , GRCh37.p13 chr1|NT_167207.1: 257,811-260,610 HYDIN2
    nsv6290404copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,043,714-148,514,899 , GRCh38.p12 chr1: 144,536,526-148,549,211 , TRN-GTT9-2, 150 more genes
    nsv6290073copy number variation1nstd218human GRCh38.p12 chr1: 143,511,409-149,082,254 , GRCh37 chr1: 147,824,148-149,378,266 , BCL9, 215 more genes
    nsv6290072copy number variation1nstd218human GRCh38.p12 chr16: 34,632,766-36,225,009 , GRCh38.p12 chr7: 61,006,478-62,429,617 , GRCh38.p12 chr1: 146,347,888-148,514,931 , GRCh37 chr1: 147,806,599-149,821,717 , BCL9, 149 more genes
    nsv6290071copy number variation1nstd218human GRCh38.p12 chr1: 143,511,409-149,082,254 , GRCh37 chr1: 147,806,599-149,209,289 , BCL9, 215 more genes
    nsv6289910copy number variation1nstd102humanLikely pathogenic GRCh37.p13 chr1|NW_003871055.3: 2,417,359-5,412,838 , GRCh38 chr1: 145,601,946-148,597,425 BCL9, FMO5, 110 more genes
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