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Items: 1 to 20 of 280

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6120953copy number variation1nstd186human GRCh37 chr16: 48,280,922-48,281,375 , GRCh38.p12 chr16: 48,247,011-48,247,464 LONP2, ABCC11
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5699476mobile element insertion1nstd211human GRCh38 chr16: 48,268,448-48,268,448 , GRCh37.p13 chr16: 48,302,359-48,302,359 LONP2
    nsv5698941mobile element insertion1nstd211human GRCh38 chr16: 48,333,146-48,333,146 , GRCh37.p13 chr16: 48,367,057-48,367,057 LONP2, UBA52P8
    nsv5663122insertion1nstd207human GRCh38 chr16: 48,247,412-48,247,412 , GRCh37.p13 chr16: 48,281,323-48,281,323 ABCC11, LONP2
    nsv5525549copy number variation1nstd206human GRCh38 chr16: 48,339,289-48,339,459 , GRCh37.p13 chr16: 48,373,200-48,373,370 LONP2
    nsv5522574copy number variation1nstd206human GRCh38 chr16: 48,247,011-48,247,464 , GRCh37.p13 chr16: 48,280,922-48,281,375 ABCC11, LONP2
    nsv5425783mobile element insertion1nstd206human GRCh38 chr16: 48,333,146-48,333,197 , GRCh37.p13 chr16: 48,367,057-48,367,108 UBA52P8, LONP2
    nsv5380197translocation1nstd200human GRCh38 chr16: 48,247,011-48,247,011 , GRCh38 chr16: 48,247,464-48,247,464 , GRCh37.p13 chr16: 48,281,375-48,281,375 , GRCh37.p13 chr16: 48,280,922-48,280,922 ABCC11, LONP2
    nsv5330528translocation1nstd200human GRCh37 chr16: 48,281,375-48,281,375 , GRCh37 chr16: 48,280,922-48,280,922 , GRCh38.p12 chr16: 48,247,011-48,247,011 , GRCh38.p12 chr16: 48,247,464-48,247,464 LONP2, ABCC11
    nsv5303536copy number variation1nstd204human GRCh38.p13 chr16: 48,247,011-48,247,464 , GRCh37.p13 chr16: 48,280,922-48,281,375 LONP2, ABCC11
    nsv5146465mobile element insertion1nstd203human GRCh38 chr16: 48,333,131-48,333,146 , GRCh37.p13 chr16: 48,367,042-48,367,057 LONP2, UBA52P8
    nsv5144558mobile element insertion1nstd203human GRCh38 chr16: 48,330,115-48,330,131 , GRCh37.p13 chr16: 48,364,026-48,364,042 LONP2
    nsv5142234mobile element insertion1nstd203human GRCh38 chr16: 48,269,922-48,269,938 , GRCh37.p13 chr16: 48,303,833-48,303,849 LONP2
    nsv5032241inversion1nstd200human GRCh38 chr16: 48,352,991-48,353,757 , GRCh37.p13 chr16: 48,386,902-48,387,668 LONP2, SIAH1
    nsv5004009copy number variation1nstd200human GRCh38 chr16: 48,355,354-48,355,470 , GRCh37.p13 chr16: 48,389,265-48,389,381 LONP2, SIAH1
    nsv5004008copy number variation1nstd200human GRCh38 chr16: 48,339,289-48,339,459 , GRCh37.p13 chr16: 48,373,200-48,373,370 LONP2
    nsv5004007copy number variation1nstd200human GRCh38 chr16: 48,300,416-48,300,514 , GRCh37.p13 chr16: 48,334,327-48,334,425 LONP2
    nsv4857015copy number variation1nstd200human GRCh37 chr16: 48,389,265-48,389,381 , GRCh38.p12 chr16: 48,355,354-48,355,470 SIAH1, LONP2
    nsv4857014copy number variation1nstd200human GRCh37 chr16: 48,373,200-48,373,370 , GRCh38.p12 chr16: 48,339,289-48,339,459 LONP2
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