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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099261copy number variation1nstd231human GRCh38.p12 chr1: 211,283,087-211,705,792 , GRCh37 chr1: 211,456,429-211,879,134 NEK2, TRAF5, 13 more genes
    nsv7040987inversion1nstd229human GRCh38 chr1: 210,564,176-212,658,793 , GRCh37.p13 chr1: 210,737,520-212,832,135 LPGAT1, RFKP5, 44 more genes
    nsv6674653copy number variation1nstd229human GRCh38 chr1: 211,363,861-211,439,875 , GRCh37.p13 chr1: 211,537,203-211,613,217 LINC00467, LOC107985259, 2 more genes
    nsv6665601copy number variation1nstd229human GRCh38 chr1: 211,335,828-211,335,951 , GRCh37.p13 chr1: 211,509,170-211,509,293 TRAF5
    nsv6661742copy number variation1nstd229human GRCh38 chr1: 211,331,199-211,340,256 , GRCh37.p13 chr1: 211,504,541-211,513,598 TRAF5
    nsv6658530copy number variation1nstd229human GRCh38 chr1: 211,323,601-211,328,400 , GRCh37.p13 chr1: 211,496,943-211,501,742 TRAF5
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6636535copy number variation1nstd102humanUncertain significance GRCh37 chr1: 211,538,672-211,617,196 , GRCh38.p12 chr1: 211,365,330-211,443,854 LOC107985259, LINC00467, 3 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6325553copy number variation1nstd223human GRCh38 chr1: 209,453,567-212,914,449 , GRCh37.p13 chr1: 209,626,912-213,087,791 ST13P19, RPS5P4, 74 more genes
    nsv6314493complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chr3: 55,591,766-55,591,766 , GRCh37 chr3: 55,591,770-55,591,770 , GRCh38.p12 chr3: 55,557,738-55,557,738 , GRCh38.p12 chr3: 55,557,742-55,557,742 , GRCh38.p12 chr1: 211,326,850-211,326,850 , GRCh38.p12 chr1: 211,326,890-211,326,890 , GRCh37 chr1: 211,500,192-211,500,192 , GRCh37 chr1: 211,500,232-211,500,232 TRAF5, ERC2
    nsv6133753copy number variation1nstd213human GRCh37 chr1: 210,410,000-214,880,001 , GRCh38.p12 chr1: 210,236,655-214,706,658 NEK2, PPP2R5A, 73 more genes
    nsv6133631copy number variation1nstd213human GRCh37 chr1: 211,490,000-211,730,001 , GRCh38.p12 chr1: 211,316,658-211,556,659 TRAF5, RCOR3, 7 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    nsv5982312copy number variation1nstd212human GRCh38 chr1: 211,336,933-211,337,007 , GRCh37.p13 chr1: 211,510,275-211,510,349 TRAF5
    nsv5874504copy number variation1nstd209human GRCh38 chr1: 211,336,906-211,336,978 , GRCh37.p13 chr1: 211,510,248-211,510,320 TRAF5
    nsv5725296mobile element insertion2nstd211human GRCh38 chr1: 211,374,676-211,374,676 , GRCh37.p13 chr1: 211,548,018-211,548,018 , TRAF5
    nsv5571190copy number variation1nstd207human GRCh38 chr1: 211,336,906-211,336,978 , GRCh37.p13 chr1: 211,510,248-211,510,320 TRAF5
    nsv5449994copy number variation1nstd206human GRCh38 chr1: 211,333,042-211,333,097 , GRCh37.p13 chr1: 211,506,384-211,506,439 TRAF5
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