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Items: 1 to 20 of 207

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5968705inversion1nstd209human GRCh38 chr12: 131,807,431-132,059,968 , GRCh37.p13 chr12: 132,291,976-132,544,513 MMP17, ULK1, 6 more genes
    nsv5940286copy number variation1nstd209human GRCh38 chr12: 131,933,067-131,933,715 , GRCh37.p13 chr12: 132,417,612-132,418,260 PUS1
    nsv5936338copy number variation1nstd209human GRCh38 chr12: 131,946,143-131,946,194 , GRCh37.p13 chr12: 132,430,688-132,430,739 PUS1
    nsv5556389sequence alteration1nstd206human GRCh38 chr12: 131,556,124-132,287,086 , GRCh37.p13 chr12: 132,040,669-132,706,992 , ULK1, 25 more genes
    nsv5500621copy number variation1nstd206human GRCh38 chr12: 131,946,143-131,946,198 , GRCh37.p13 chr12: 132,430,688-132,430,743 PUS1
    nsv5314910copy number variation1nstd204human GRCh38.p13 chr12: 131,944,443-131,946,407 , GRCh37.p13 chr12: 132,428,988-132,430,952 PUS1
    nsv5309724copy number variation1nstd204human GRCh38.p13 chr12: 131,930,725-131,930,887 , GRCh37.p13 chr12: 132,415,270-132,415,432 PUS1
    nsv5004262copy number variation1nstd200human GRCh38 chr12: 131,728,030-132,476,582 , GRCh37.p13 chr12: 132,212,575-133,053,168 , LOC105370091, 22 more genes
    nsv4838090copy number variation1nstd200human GRCh37 chr12: 132,212,575-133,053,168 , GRCh38.p12 chr12: 131,728,030-132,476,582 , LOC105370091, 22 more genes
    nsv4837693copy number variation1nstd200human GRCh37 chr12: 132,428,988-132,431,014 , GRCh38.p12 chr12: 131,944,443-131,946,469 PUS1
    nsv4729238copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,230,559-132,545,601 , GRCh38.p12 chr12: 131,746,014-132,061,056 EP400, LOC105370088, 8 more genes
    nsv4728986copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,382,041-132,887,378 , GRCh38.p12 chr12: 131,897,496-132,310,792 ULK1, EP400, 11 more genes
    nsv4683441copy number variation1nstd102humanPathogenic GRCh37 chr12: 132,414,258-132,428,141 , GRCh38.p12 chr12: 131,929,713-131,943,596 PUS1
    nsv4456888copy number variation1nstd102humanUncertain significance GRCh37 chr12: 126,470,636-133,777,902 , GRCh38.p12 chr12: 125,986,090-133,201,316 LINC02347, LOC107987176, 145 more genes
    nsv4456808copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,343,915-132,665,554 , GRCh38.p12 chr12: 131,859,370-132,181,009 LOC107987169, DDX51, 7 more genes
    nsv4456101copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,343,915-132,462,319 , GRCh38.p12 chr12: 131,859,370-131,977,774 PUS1-AS1, ULK1, 2 more genes
    nsv4455822copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,382,041-132,975,645 , GRCh38.p12 chr12: 131,897,496-132,399,059 SNORA49, NOC4L, 12 more genes
    nsv4455667copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,395,175-132,545,601 , GRCh38.p12 chr12: 131,910,630-132,061,056 PUS1-AS1, SNORA49, 3 more genes
    nsv4455518copy number variation1nstd102humanUncertain significance GRCh37 chr12: 131,505,849-132,681,966 , GRCh38.p12 chr12: 131,021,304-132,197,421 LOC105370082, LINC02414, 33 more genes
    nsv4436746copy number variation1nstd102humanPathogenic GRCh37 chr12: 131,363,916-133,777,645 , GRCh38.p12 chr12: 130,879,371-133,201,059 LOC107984452, RNA5SP377, 68 more genes
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