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Items: 1 to 20 of 255

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5907792copy number variation1nstd209human GRCh38 chr8: 22,575,262-22,575,449 , GRCh37.p13 chr8: 22,432,775-22,432,962 SORBS3
    nsv5578994copy number variation1nstd207human GRCh38 chr8: 22,575,588-22,576,993 , GRCh37.p13 chr8: 22,433,101-22,434,506 PDLIM2, SORBS3
    nsv5477510copy number variation1nstd206human GRCh38 chr8: 22,575,591-22,576,994 , GRCh37.p13 chr8: 22,433,104-22,434,507 PDLIM2, SORBS3
    nsv5339459translocation1nstd200human GRCh37 chr8: 22,432,775-22,432,775 , GRCh37 chr8: 22,432,963-22,432,963 , GRCh38.p12 chr8: 22,575,450-22,575,450 , GRCh38.p12 chr8: 22,575,262-22,575,262 SORBS3
    nsv5200364copy number variation1nstd102humanPathogenic GRCh37 chr8: 176,814-43,396,776 , GRCh38.p12 chr8: 226,814-43,541,633 LOC100130612, XPO7, 770 more genes
    nsv5186957mobile element insertion1nstd203human GRCh38 chr8: 22,543,656-22,543,666 , GRCh37.p13 chr8: 22,401,169-22,401,179 SORBS3
    nsv4959660copy number variation1nstd200human GRCh38 chr8: 22,575,591-22,576,994 , GRCh37.p13 chr8: 22,433,104-22,434,507 PDLIM2, SORBS3
    nsv4959659copy number variation1nstd200human GRCh38 chr8: 22,567,120-22,569,150 , GRCh37.p13 chr8: 22,424,633-22,426,663 SORBS3
    nsv4959658copy number variation1nstd200human GRCh38 chr8: 22,567,098-22,568,966 , GRCh37.p13 chr8: 22,424,611-22,426,479 SORBS3
    nsv4959657copy number variation1nstd200human GRCh38 chr8: 22,551,251-22,551,900 , GRCh37.p13 chr8: 22,408,764-22,409,413 SORBS3
    nsv4821474copy number variation1nstd200human GRCh37 chr8: 22,433,104-22,434,507 , GRCh38.p12 chr8: 22,575,591-22,576,994 PDLIM2, SORBS3
    nsv4728911copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 12,528,482-29,886,483 , GRCh38.p12 chr8: 12,670,973-30,028,967 NAT1, NAT2, 272 more genes
    nsv4610028copy number variation2nstd183human GRCh37 chr8: 22,424,405-22,424,449 , GRCh38.p12 chr8: 22,566,892-22,566,936 SORBS3
    nsv4457159copy number variation1nstd102humanPathogenic GRCh37 chr8: 21,662,847-24,199,218 , GRCh38.p12 chr8: 21,805,335-24,341,705 SINHCAFP3, RPL23AP55, 66 more genes
    nsv4456958copy number variation1nstd102humanUncertain significance GRCh37 chr8: 20,564,910-22,629,124 , GRCh38.p12 chr8: 20,707,399-22,771,611 LINC03023, RPL21P77, 42 more genes
    nsv4349554copy number variation2nstd102humanPathogenic GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385 LOC101929488, TEX15, 2105 more genes
    nsv4348018copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 12,546,855-35,816,855 , GRCh38.p12 chr8: 12,689,346-35,959,337 NAT1, NAT2, 343 more genes
    nsv4172073copy number variation1nstd166human GRCh37.p13 chr8: 22,424,611-22,426,479 , GRCh38.p12 chr8: 22,567,098-22,568,966 SORBS3
    nsv4163241copy number variation1nstd166human GRCh37.p13 chr8: 22,412,450-22,414,603 , GRCh38.p12 chr8: 22,554,937-22,557,090 SORBS3
    nsv4160495copy number variation1nstd166human GRCh37.p13 chr8: 22,388,701-22,438,113 , GRCh38.p12 chr8: 22,531,188-22,580,600 PPP3CC, SORBS3, 1 more genes
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