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Items: 1 to 20 of 345

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148161copy number variation1nstd102humanPathogenic GRCh38 chr4: 1-49,062,177 , GRCh37.p13 chr4: 507,005-49,064,194 SLIRPP2, STIM2-AS1, 659 more genes
    nsv7148157copy number variation1nstd102humanPathogenic GRCh38 chr4: 85,624-57,073,230 , GRCh37.p13 chr4: 507,005-57,939,396 OR7E84P, FAM193A, 764 more genes
    nsv6634358copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-49,089,361 , GRCh38.p12 chr4: 68,453-49,087,344 LINC02475, LOC105374344, 658 more genes
    nsv5997525copy number variation1nstd212human GRCh38 chr4: 48,412,311-48,412,532 , GRCh37.p13 chr4: 48,414,328-48,414,549 SLAIN2, LOC107986278
    nsv5997472copy number variation1nstd212human GRCh38 chr4: 48,363,384-48,363,445 , GRCh37.p13 chr4: 48,365,401-48,365,462 SLAIN2
    nsv5997341copy number variation1nstd212human GRCh38 chr4: 48,416,519-48,416,638 , GRCh37.p13 chr4: 48,418,536-48,418,655 SLAIN2
    nsv5976400inversion1nstd209human GRCh38 chr4: 48,381,836-48,382,091 , GRCh37.p13 chr4: 48,383,853-48,384,108 SLAIN2
    nsv5965543insertion1nstd209human GRCh38 chr4: 48,368,051-48,368,051 , GRCh37.p13 chr4: 48,370,068-48,370,068 SLAIN2
    nsv5907132copy number variation1nstd209human GRCh38 chr4: 48,412,311-48,412,531 , GRCh37.p13 chr4: 48,414,328-48,414,548 SLAIN2, LOC107986278
    nsv5890800copy number variation1nstd209human GRCh38 chr4: 48,346,797-48,347,259 , GRCh37.p13 chr4: 48,348,814-48,349,276 SLAIN2
    nsv5839615copy number variation1nstd209human GRCh38 chr4: 48,417,921-48,431,777 , GRCh37.p13 chr4: 48,419,938-48,433,794 SLAIN2
    nsv5691468mobile element insertion2nstd211human GRCh38 chr4: 48,353,440-48,353,440 , GRCh37.p13 chr4: 48,355,457-48,355,457 SLAIN2
    nsv5684920mobile element insertion1nstd211human GRCh38 chr4: 48,404,252-48,404,252 , GRCh37.p13 chr4: 48,406,269-48,406,269 SLAIN2
    nsv5584279copy number variation1nstd207human GRCh38 chr4: 48,412,311-48,412,531 , GRCh37.p13 chr4: 48,414,328-48,414,548 SLAIN2, LOC107986278
    nsv5387422copy number variation2nstd186human GRCh37 chr4: 48,414,331-48,414,549 , GRCh38.p12 chr4: 48,412,314-48,412,532 SLAIN2, LOC107986278
    nsv5367493translocation1nstd200human GRCh38 chr6: 84,086,204-84,086,204 , GRCh38 chr4: 48,365,076-48,365,076 , GRCh37.p13 chr6: 84,795,923-84,795,923 , GRCh37.p13 chr4: 48,367,093-48,367,093 MRAP2, SLAIN2
    nsv5352916translocation1nstd200human GRCh38 chr4: 48,420,443-48,420,443 , GRCh38 chr4: 48,422,007-48,422,007 , GRCh37.p13 chr4: 48,422,460-48,422,460 , GRCh37.p13 chr4: 48,424,024-48,424,024 SLAIN2
    nsv5352915translocation1nstd200human GRCh38 chr4: 48,379,687-48,379,687 , GRCh38 chr4: 48,378,064-48,378,064 , GRCh37.p13 chr4: 48,380,081-48,380,081 , GRCh37.p13 chr4: 48,381,704-48,381,704 SLAIN2
    nsv5352914translocation1nstd200human GRCh38 chr4: 48,347,260-48,347,260 , GRCh38 chr4: 48,346,800-48,346,800 , GRCh37.p13 chr4: 48,348,817-48,348,817 , GRCh37.p13 chr4: 48,349,277-48,349,277 SLAIN2
    nsv5342567translocation1nstd200human GRCh37 chr6: 84,795,923-84,795,923 , GRCh37 chr4: 48,367,093-48,367,093 , GRCh38.p12 chr4: 48,365,076-48,365,076 , GRCh38.p12 chr6: 84,086,204-84,086,204 SLAIN2, MRAP2
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