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Items: 1 to 20 of 307

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5929413copy number variation1nstd209human GRCh38 chr17: 45,485,636-45,485,954 , GRCh37.p13 chr17: 43,563,002-43,563,320 PLEKHM1
    nsv5654360insertion1nstd207human GRCh38 chr17: 45,477,177-45,477,177 , GRCh37.p13 chr17: 43,554,543-43,554,543 PLEKHM1
    nsv5602390copy number variation1nstd207human GRCh38 chr17: 45,449,319-45,449,383 , GRCh37.p13 chr17: 43,526,685-43,526,749 PLEKHM1
    nsv5602192copy number variation1nstd207human GRCh38 chr17: 45,435,316-45,436,148 , GRCh37.p13 chr17: 43,512,682-43,513,514 PLEKHM1
    nsv5598575copy number variation1nstd207human GRCh38 chr17: 45,449,960-45,450,139 , GRCh37.p13 chr17: 43,527,326-43,527,505 PLEKHM1
    nsv5592330copy number variation1nstd207human GRCh38 chr17: 45,438,246-45,438,552 , GRCh37.p13 chr17: 43,515,612-43,515,918 PLEKHM1
    nsv5589638copy number variation1nstd207human GRCh38 chr17: 45,433,558-45,433,645 , GRCh37.p13 chr17: 43,510,924-43,511,011 PLEKHM1
    nsv5587402copy number variation1nstd207human GRCh38 chr17: 45,433,819-45,434,161 , GRCh37.p13 chr17: 43,511,185-43,511,527 PLEKHM1
    nsv5586735copy number variation1nstd207human GRCh38 chr17: 45,438,243-45,438,331 , GRCh37.p13 chr17: 43,515,609-43,515,697 PLEKHM1
    nsv5586023copy number variation1nstd207human GRCh38 chr17: 45,485,924-45,486,254 , GRCh37.p13 chr17: 43,563,290-43,563,620 PLEKHM1
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5525883copy number variation1nstd206human GRCh38 chr17: 45,485,986-45,488,669 , GRCh37.p13 chr17: 43,563,352-43,566,035 PLEKHM1
    nsv5365771translocation1nstd200human GRCh38 chr17: 45,488,645-45,488,645 , GRCh38 chrX: 68,328,700-68,328,700 , GRCh37.p13 chrX: 67,548,542-67,548,542 , GRCh37.p13 chr17: 43,566,011-43,566,011 OPHN1, PLEKHM1
    nsv5340954translocation1nstd200human GRCh37 chrX: 67,548,542-67,548,542 , GRCh37 chr17: 43,566,011-43,566,011 , GRCh38.p12 chr17|NT_187663.1: 178,800-178,800 , GRCh38.p12 chr17: 45,488,645-45,488,645 , GRCh38.p12 chrX: 68,328,700-68,328,700 PLEKHM1, OPHN1
    nsv5013754copy number variation1nstd200human GRCh38 chr17: 45,480,340-45,485,985 , GRCh37.p13 chr17: 43,557,706-43,563,351 PLEKHM1
    nsv4867142copy number variation1nstd200human GRCh37 chr17: 43,510,975-43,511,285 , GRCh38.p12 chr17|NT_187663.1: 124,114-124,424 , GRCh38.p12 chr17: 45,433,609-45,433,919 PLEKHM1
    nsv4727901copy number variation2nstd197human GRCh37 chr17: 43,515,225-44,249,509 , GRCh38.p12 chr17: 45,437,859-46,172,143 , GRCh38.p12 chr17|NT_187663.1: 128,364-874,248 CRHR1, MAPT, 24 more genes
    nsv4684193copy number variation1nstd102humanPathogenic GRCh37 chr17: 43,559,851-44,248,220 , GRCh38.p12 chr17|NT_187663.1: 172,640-872,959 , GRCh38.p12 chr17: 45,482,485-46,170,854 LOC105371800, KANSL1, 23 more genes
    nsv4633220copy number variation1nstd183human GRCh37 chr17: 43,519,515-43,522,826 , GRCh38.p12 chr17: 45,442,149-45,445,460 , GRCh38.p12 chr17|NT_187663.1: 132,654-135,965 PLEKHM1
    nsv4631751copy number variation2nstd183human GRCh37 chr17: 43,522,781-43,522,826 , GRCh38.p12 chr17: 45,445,415-45,445,460 , GRCh38.p12 chr17|NT_187663.1: 135,920-135,965 PLEKHM1
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