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Items: 1 to 20 of 890

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145512copy number variation1nstd232human GRCh37.p13 chr2: 233,930,301-233,930,361 , GRCh38.p12 chr2: 233,065,591-233,065,651 , GRCh38.p12 chr2|NW_011332690.1: 10,929-10,989 INPP5D
    nsv7141558copy number variation1nstd232human GRCh37.p13 chr2: 233,930,273-233,930,336 , GRCh38.p12 chr2: 233,065,563-233,065,626 , GRCh38.p12 chr2|NW_011332690.1: 10,901-10,964 INPP5D
    nsv6628068copy number variation1nstd224human GRCh37 chr2: 234,178,662-234,255,047 , GRCh38.p12 chr2: 233,270,016-233,346,401 , GRCh38.p12 chr2|NW_011332690.1: 215,354-291,739 SAG, ATG16L1, 2 more genes
    nsv6311658copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,237,727-234,247,303 , GRCh38.p12 chr2: 233,329,081-233,338,657 , GRCh38.p12 chr2|NW_011332690.1: 274,419-283,995 SAG
    nsv6306668insertion1nstd186human GRCh37 chr2: 234,313,320-234,313,334 , GRCh38.p12 chr2|NW_011332690.1: 350,012-350,026 , GRCh38.p12 chr2: 233,404,674-233,404,688 DGKD
    nsv6300394copy number variation1nstd186human GRCh37 chr2: 234,122,432-234,123,472 , GRCh38.p12 chr2|NW_011332690.1: 159,124-160,164 , GRCh38.p12 chr2: 233,213,786-233,214,826 0
    nsv6300140copy number variation1nstd186human GRCh37 chr2: 233,946,446-233,946,507 , GRCh38.p12 chr2: 233,081,736-233,081,797 , GRCh38.p12 chr2|NW_011332690.1: 27,074-27,135 INPP5D
    nsv6299916copy number variation1nstd186human GRCh37 chr2: 234,160,948-234,161,003 , GRCh38.p12 chr2: 233,252,302-233,252,357 , GRCh38.p12 chr2|NW_011332690.1: 197,640-197,695 ATG16L1
    nsv6299082copy number variation1nstd186human GRCh37 chr2: 234,219,447-234,225,760 , GRCh38.p12 chr2: 233,310,801-233,317,114 , GRCh38.p12 chr2|NW_011332690.1: 256,139-262,452 SAG
    nsv6134653copy number variation1nstd213human GRCh37 chr2: 234,000,000-234,110,001 , GRCh38.p12 chr2: 233,135,290-233,201,355 , GRCh38.p12 chr2|NW_011332690.1: 80,628-146,693 INPP5D
    nsv6134350copy number variation1nstd213human GRCh37 chr2: 233,930,000-234,100,001 , GRCh38.p12 chr2: 233,065,290-233,191,355 , GRCh38.p12 chr2|NW_011332690.1: 10,628-136,693 INPP5D
    nsv5673615copy number variation2nstd102humanPathogenic GRCh37 chr2: 234,224,701-234,224,801 , GRCh38.p12 chr2|NW_011332690.1: 261,393-261,493 , GRCh38.p12 chr2: 233,316,055-233,316,155 SAG
    nsv5673217copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,217,836-234,217,930 , GRCh38.p12 chr2|NW_011332690.1: 254,528-254,622 , GRCh38.p12 chr2: 233,309,190-233,309,284 SAG
    nsv5383483copy number variation1nstd186human GRCh37 chr2: 234,107,862-234,108,090 , GRCh38.p12 chr2: 233,199,216-233,199,444 , GRCh38.p12 chr2|NW_011332690.1: 144,554-144,782 INPP5D
    nsv5383442copy number variation1nstd186human GRCh37 chr2: 234,305,544-234,306,137 , GRCh38.p12 chr2|NW_011332690.1: 342,236-342,829 , GRCh38.p12 chr2: 233,396,898-233,397,491 DGKD
    nsv5342679translocation1nstd200human GRCh37 chr2: 234,260,229-234,260,229 , GRCh37 chr2: 234,255,440-234,255,440 , GRCh38.p12 chr2: 233,351,583-233,351,583 , GRCh38.p12 chr2|NW_011332690.1: 296,921-296,921 , GRCh38.p12 chr2: 233,346,794-233,346,794 , GRCh38.p12 chr2|NW_011332690.1: 292,132-292,132 SAG
    nsv5339871translocation1nstd200human GRCh37 chr2: 234,263,560-234,263,560 , GRCh37 chr2: 234,263,507-234,263,507 , GRCh38.p12 chr2: 233,354,914-233,354,914 , GRCh38.p12 chr2|NW_011332690.1: 300,252-300,252 , GRCh38.p12 chr2: 233,354,861-233,354,861 , GRCh38.p12 chr2|NW_011332690.1: 300,199-300,199 DGKD
    nsv5334706translocation1nstd200human GRCh37 chr2: 234,279,316-234,279,316 , GRCh37 chr2: 234,275,395-234,275,395 , GRCh38.p12 chr2: 233,366,749-233,366,749 , GRCh38.p12 chr2|NW_011332690.1: 316,008-316,008 , GRCh38.p12 chr2|NW_011332690.1: 312,087-312,087 , GRCh38.p12 chr2: 233,370,670-233,370,670 DGKD
    nsv5330971translocation1nstd200human GRCh37 chr2: 234,136,990-234,136,990 , GRCh37 chr2: 234,134,005-234,134,005 , GRCh38.p12 chr2: 233,225,359-233,225,359 , GRCh38.p12 chr2: 233,228,344-233,228,344 , GRCh38.p12 chr2|NW_011332690.1: 173,682-173,682 , GRCh38.p12 chr2|NW_011332690.1: 170,697-170,697 0
    nsv4806325copy number variation1nstd200human GRCh37 chr2: 234,319,638-234,319,881 , GRCh38.p12 chr2: 233,410,992-233,411,235 , GRCh38.p12 chr2|NW_011332690.1: 356,330-356,573 DGKD
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