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Items: 1 to 20 of 957

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147575copy number variation1nstd232human GRCh37.p13 chr17: 406,323-406,414 , GRCh38.p12 chr17: 503,083-503,174 , GRCh38.p12 chr17|NW_017363817.1: 62,560-62,651 0
    nsv7145975copy number variation1nstd232human GRCh37.p13 chr17: 482,361-482,424 , GRCh38.p12 chr17: 579,121-579,184 , GRCh38.p12 chr17|NW_017363817.1: 138,598-138,661 VPS53
    nsv7145545copy number variation1nstd232human GRCh37.p13 chr17: 408,895-408,959 , GRCh38.p12 chr17: 505,655-505,719 , GRCh38.p12 chr17|NW_017363817.1: 65,132-65,196 0
    nsv7144854insertion1nstd232human GRCh37.p13 chr17: 522,197-522,197 , GRCh38.p12 chr17: 618,957-618,957 , GRCh38.p12 chr17|NW_017363817.1: 178,434-178,434 VPS53
    nsv7143127copy number variation1nstd232human GRCh37.p13 chr17: 438,620-438,693 , GRCh38.p12 chr17: 535,380-535,453 , GRCh38.p12 chr17|NW_017363817.1: 94,857-94,930 VPS53
    nsv7141141insertion1nstd232human GRCh37.p13 chr17: 482,349-482,349 , GRCh38.p12 chr17: 579,109-579,109 , GRCh38.p12 chr17|NW_017363817.1: 138,586-138,586 VPS53
    nsv7139348insertion1nstd232human GRCh37.p13 chr17: 254,252-254,252 , GRCh38.p12 chr17: 404,461-404,461 , GRCh38.p12 chr17|NW_017363817.1: 1,824-1,824 LOC105371430
    nsv7139052copy number variation1nstd232human GRCh37.p13 chr17: 412,656-412,722 , GRCh38.p12 chr17: 509,416-509,482 , GRCh38.p12 chr17|NW_017363817.1: 68,893-68,959 VPS53
    nsv7094905copy number variation1nstd102humanUncertain significance GRCh37 chr17: 505,015-722,805 , GRCh38.p12 chr17: 601,775-819,565 , GRCh38.p12 chr17|NW_017363817.1: 161,252-281,919 GLOD4, TLCD3A, 6 more genes
    nsv6638037copy number variation1nstd102humanUncertain significance GRCh37 chr17: 488,606-678,478 , GRCh38.p12 chr17: 585,366-775,238 , GRCh38.p12 chr17|NW_017363817.1: 144,843-281,919 RPS4XP17, VPS53, 4 more genes
    nsv6637561copy number variation1nstd102humanUncertain significance GRCh37 chr17: 503,526-735,311 , GRCh38.p12 chr17: 600,286-832,071 , GRCh38.p12 chr17|NW_017363817.1: 159,763-281,919 GLOD4, TLCD3A, 6 more genes
    nsv6637223copy number variation1nstd102humanUncertain significance GRCh37 chr17: 504,459-734,664 , GRCh38.p12 chr17: 601,219-831,424 , GRCh38.p12 chr17|NW_017363817.1: 160,696-281,919 VPS53, MRM3, 6 more genes
    nsv6624251copy number variation1nstd224human GRCh37 chr17: 463,789-746,832 , GRCh38.p12 chr17: 560,549-843,592 , GRCh38.p12 chr17|NW_017363817.1: 120,026-281,919 GEMIN4, GLOD4, 6 more genes
    nsv6624215copy number variation1nstd224human GRCh37 chr17: 221,026-295,777 , GRCh38.p12 chr17: 371,235-445,986 , GRCh38.p12 chr17|NW_017363817.1: 1-43,349 LIAT1, LOC105371430, 1 more genes
    nsv6624050copy number variation1nstd224human GRCh37 chr17: 173,906-554,080 , GRCh38.p12 chr17: 324,115-650,840 , GRCh38.p12 chr17|NW_017363817.1: 1-210,317 RPH3AL, VPS53, 5 more genes
    nsv6315462copy number variation1nstd102humanUncertain significance GRCh37 chr17: 468,095-661,692 , GRCh38.p12 chr17: 564,855-758,452 , GRCh38.p12 chr17|NW_017363817.1: 124,332-281,919 GEMIN4, TLCD3A, 4 more genes
    nsv6315118copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 411,907-618,097 , GRCh38.p12 chr17: 508,667-714,857 , GRCh38.p12 chr17|NW_017363817.1: 68,144-274,334 VPS53, RPS4XP17
    nsv6314838copy number variation1nstd102humanUncertain significance GRCh37 chr17: 602,621-618,097 , GRCh38.p12 chr17: 699,381-714,857 , GRCh38.p12 chr17|NW_017363817.1: 258,858-274,334 VPS53
    nsv6314720copy number variation1nstd102humanUncertain significance GRCh37 chr17: 411,907-455,111 , GRCh38.p12 chr17|NW_017363817.1: 68,144-111,348 , GRCh38.p12 chr17: 508,667-551,871 VPS53
    nsv6306662copy number variation1nstd186human GRCh37 chr17: 546,083-546,501 , GRCh38.p12 chr17: 642,843-643,261 , GRCh38.p12 chr17|NW_017363817.1: 202,320-202,738 VPS53
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