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Items: 1 to 20 of 237

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099244copy number variation1nstd231human GRCh38.p12 chr1: 166,864,890-169,028,321 , GRCh37 chr1: 166,834,127-168,997,559 CD247, DPT, 49 more genes
    nsv7041734inversion1nstd229human GRCh38 chr1: 166,263,566-167,062,529 , GRCh37.p13 chr1: 166,232,803-167,031,766 POGK, ILDR2, 16 more genes
    nsv7041515inversion1nstd229human GRCh38 chr1: 166,966,445-166,969,634 , GRCh37.p13 chr1: 166,935,682-166,938,871 ILDR2, MAEL
    nsv7039884inversion1nstd229human GRCh38 chr1: 159,817,036-167,858,499 , GRCh37.p13 chr1: 159,786,826-167,827,737 TRP-AGG2-1, FCGR2C, 228 more genes
    nsv7038630inversion1nstd229human GRCh38 chr1: 166,943,588-166,943,637 , GRCh37.p13 chr1: 166,912,825-166,912,874 MAEL, ILDR2
    nsv6644178copy number variation1nstd229human GRCh38 chr1: 167,013,591-167,015,931 , GRCh37.p13 chr1: 166,982,828-166,985,168 MAEL
    nsv6644177copy number variation1nstd229human GRCh38 chr1: 167,001,688-167,006,627 , GRCh37.p13 chr1: 166,970,925-166,975,864 RNA5SP65, MAEL
    nsv6644006copy number variation1nstd229human GRCh38 chr1: 166,918,969-166,919,355 , GRCh37.p13 chr1: 166,888,206-166,888,592 ILDR2, MAEL
    nsv6643740copy number variation1nstd229human GRCh38 chr1: 166,970,722-166,983,545 , GRCh37.p13 chr1: 166,939,959-166,952,782 MAEL, ILDR2
    nsv6540250inversion1nstd223human GRCh38 chr1: 163,441,141-169,028,378 , GRCh37.p13 chr1: 163,410,931-168,997,616 LOC107985452, NMNAT1P2, 96 more genes
    nsv6334263copy number variation1nstd223human GRCh38 chr1: 166,975,901-166,992,500 , GRCh37.p13 chr1: 166,945,138-166,961,737 ILDR2, MAEL
    nsv6319820copy number variation1nstd223human GRCh38 chr1: 166,945,801-166,950,500 , GRCh37.p13 chr1: 166,915,038-166,919,737 MAEL, ILDR2
    nsv6317060copy number variation1nstd223human GRCh38 chr1: 166,920,301-166,921,600 , GRCh37.p13 chr1: 166,889,538-166,890,837 ILDR2, MAEL
    nsv6316712copy number variation1nstd223human GRCh38 chr1: 166,944,138-166,945,413 , GRCh37.p13 chr1: 166,913,375-166,914,650 MAEL, ILDR2
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133566copy number variation1nstd213human GRCh37 chr1: 166,790,000-166,890,001 , GRCh38.p12 chr1: 166,820,763-166,920,764 POGK, MAEL, 3 more genes
    nsv6133565copy number variation1nstd213human GRCh37 chr1: 164,310,000-170,640,001 , GRCh38.p12 chr1: 164,340,763-170,670,860 ATP1B1, DPT, 126 more genes
    nsv6046571insertion1nstd212human GRCh38 chr1: 166,947,324-166,947,324 , GRCh37.p13 chr1: 166,916,561-166,916,561 ILDR2, MAEL
    nsv5868036copy number variation1nstd209human GRCh38 chr1: 166,944,117-166,945,396 , GRCh37.p13 chr1: 166,913,354-166,914,633 MAEL, ILDR2
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