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Items: 1 to 20 of 276

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5969176insertion1nstd209human GRCh38 chr22: 41,154,376-41,154,376 , GRCh37.p13 chr22: 41,550,380-41,550,380 EP300
    nsv5883339copy number variation1nstd209human GRCh38 chr22: 41,111,953-41,113,652 , GRCh37.p13 chr22: 41,507,957-41,509,656 EP300
    nsv5709579mobile element insertion2nstd211human GRCh38 chr22: 41,093,219-41,093,219 , GRCh37.p13 chr22: 41,489,223-41,489,223 EP300
    nsv5674315delins1nstd102humanPathogenic GRCh37 chr22: 41,546,388-41,552,986 , GRCh38 chr22: 41,150,384-41,156,982 EP300
    nsv5548529copy number variation1nstd206human GRCh38 chr22: 41,147,724-41,147,777 , GRCh37.p13 chr22: 41,543,728-41,543,781 EP300
    nsv5545372copy number variation1nstd206human GRCh38 chr22: 41,094,365-41,096,640 , GRCh37.p13 chr22: 41,490,369-41,492,644 EP300
    nsv5542827copy number variation1nstd206human GRCh38 chr22: 41,156,722-41,156,811 , GRCh37.p13 chr22: 41,552,726-41,552,815 EP300
    nsv5541021copy number variation1nstd206human GRCh38 chr22: 41,170,796-41,171,825 , GRCh37.p13 chr22: 41,566,800-41,567,829 EP300
    nsv5418898mobile element insertion1nstd206human GRCh38 chr22: 41,093,219-41,093,270 , GRCh37.p13 chr22: 41,489,223-41,489,274 EP300
    nsv5360598translocation1nstd200human GRCh38 chr22: 41,128,468-41,128,468 , GRCh38 chr22: 41,128,380-41,128,380 , GRCh37.p13 chr22: 41,524,384-41,524,384 , GRCh37.p13 chr22: 41,524,472-41,524,472 EP300
    nsv5339024translocation1nstd200human GRCh37 chr22: 41,524,384-41,524,384 , GRCh37 chr22: 41,524,472-41,524,472 , GRCh38.p12 chr22: 41,128,380-41,128,380 , GRCh38.p12 chr22: 41,128,468-41,128,468 EP300
    nsv5327898translocation1nstd204human GRCh38.p13 chr22: 41,128,380-41,128,380 , GRCh38.p13 chr22: 41,128,468-41,128,468 , GRCh37.p13 chr22: 41,524,384-41,524,384 , GRCh37.p13 chr22: 41,524,472-41,524,472 EP300
    nsv5290681copy number variation1nstd204human GRCh37.p13 chr22: 41,371,805-41,563,104 , GRCh38.p13 chr22: 40,975,801-41,167,100 EP300, RPS9P2, 4 more genes
    nsv5281292copy number variation1nstd204human GRCh38.p13 chr22: 41,124,301-41,900,100 , GRCh37.p13 chr22: 41,520,305-42,296,104 SNU13, RANGAP1, 34 more genes
    nsv5179343mobile element insertion1nstd203human GRCh38 chr22: 41,171,230-41,171,230 , GRCh37.p13 chr22: 41,567,234-41,567,234 EP300
    nsv5167073mobile element insertion1nstd203human GRCh38 chr22: 41,120,701-41,120,718 , GRCh37.p13 chr22: 41,516,705-41,516,722 EP300
    nsv5161822mobile element insertion1nstd203human GRCh38 chr22: 41,101,064-41,101,082 , GRCh37.p13 chr22: 41,497,068-41,497,086 EP300
    nsv5040132copy number variation1nstd200human GRCh38 chr22: 41,101,257-41,110,396 , GRCh37.p13 chr22: 41,497,261-41,506,400 EP300
    nsv5039674copy number variation1nstd200human GRCh38 chr22: 41,102,775-41,103,199 , GRCh37.p13 chr22: 41,498,779-41,499,203 EP300
    nsv5039058copy number variation1nstd200human GRCh38 chr22: 41,151,032-41,151,273 , GRCh37.p13 chr22: 41,547,036-41,547,277 EP300
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