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Items: 1 to 20 of 199

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5956976copy number variation1nstd209human GRCh38 chr22: 43,117,623-43,117,925 , GRCh37.p13 chr22: 43,513,629-43,513,931 BIK
    nsv5956957copy number variation1nstd209human GRCh38 chr22: 43,115,588-43,116,583 , GRCh37.p13 chr22: 43,511,594-43,512,589 BIK
    nsv5947634copy number variation1nstd209human GRCh38 chr22: 43,109,767-43,119,704 , GRCh37.p13 chr22: 43,505,773-43,515,710 BIK
    nsv5947561copy number variation1nstd209human GRCh38 chr22: 43,116,769-43,117,701 , GRCh37.p13 chr22: 43,512,775-43,513,707 BIK
    nsv5886076copy number variation1nstd209human GRCh38 chr22: 43,119,839-43,126,338 , GRCh37.p13 chr22: 43,515,845-43,522,344 BIK
    nsv5879737copy number variation2nstd209human GRCh38 chr22: 43,109,171-43,119,713 , GRCh37.p13 chr22: 43,505,177-43,515,719 BIK
    nsv5877422copy number variation2nstd209human GRCh38 chr22: 43,114,738-43,115,737 , GRCh37.p13 chr22: 43,510,744-43,511,743 BIK
    nsv5872442copy number variation2nstd209human GRCh38 chr22: 43,115,538-43,116,837 , GRCh37.p13 chr22: 43,511,544-43,512,843 BIK
    nsv5870167copy number variation1nstd209human GRCh38 chr22: 43,118,402-43,130,671 , GRCh37.p13 chr22: 43,514,408-43,526,677 MCAT, BIK
    nsv5868162copy number variation1nstd209human GRCh38 chr22: 43,104,419-43,114,737 , GRCh37.p13 chr22: 43,500,425-43,510,743 BIK
    nsv5673276copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,440,000-43,780,000 , GRCh38.p12 chr22: 42,043,996-43,383,994 RPL5P34, ARFGAP3, 48 more genes
    nsv5558119sequence alteration1nstd206human GRCh38 chr22: 42,902,305-43,295,409 , GRCh37.p13 chr22: 43,298,311-43,691,415 BIK, MCAT, 9 more genes
    nsv5545782copy number variation1nstd206human GRCh38 chr22: 43,120,725-43,128,509 , GRCh37.p13 chr22: 43,516,731-43,524,515 BIK
    nsv5540037copy number variation1nstd206human GRCh38 chr22: 43,117,176-43,121,984 , GRCh37.p13 chr22: 43,513,182-43,517,990 BIK
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
    nsv5360615translocation1nstd200human GRCh38 chr22: 43,118,098-43,118,098 , GRCh38 chr22: 43,123,242-43,123,242 , GRCh37.p13 chr22: 43,519,248-43,519,248 , GRCh37.p13 chr22: 43,514,104-43,514,104 BIK
    nsv5323035copy number variation1nstd204human GRCh38.p13 chr22: 43,118,088-43,123,251 , GRCh37.p13 chr22: 43,514,094-43,519,257 BIK
    nsv5284347copy number variation1nstd204human GRCh38.p13 chr22: 43,118,089-43,123,338 , GRCh37.p13 chr22: 43,514,095-43,519,344 BIK
    nsv5280935copy number variation1nstd204human GRCh38.p13 chr22: 43,118,101-43,123,200 , GRCh37.p13 chr22: 43,514,107-43,519,206 BIK
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