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Items: 1 to 20 of 347

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964558copy number variation1nstd209human GRCh38 chr21: 45,255,677-45,255,747 , GRCh37.p13 chr21: 46,675,592-46,675,662 LINC00334
    nsv5873267copy number variation1nstd209human GRCh38 chr21: 45,236,663-45,238,962 , GRCh37.p13 chr21: 46,656,578-46,658,877 LINC00334
    nsv5712333mobile element insertion1nstd211human GRCh38 chr21: 45,246,793-45,246,793 , GRCh37.p13 chr21: 46,666,708-46,666,708 LINC00334
    nsv5595601copy number variation1nstd207human GRCh38 chr21: 45,245,566-45,245,637 , GRCh37.p13 chr21: 46,665,481-46,665,552 LINC00334
    nsv5540153insertion1nstd206human GRCh38 chr21: 45,253,962-45,253,994 , GRCh37.p13 chr21: 46,673,877-46,673,909 LINC00334
    nsv5421267mobile element insertion1nstd206human GRCh38 chr21: 45,246,793-45,246,844 , GRCh37.p13 chr21: 46,666,708-46,666,759 LINC00334
    nsv5321720copy number variation1nstd204human GRCh38.p13 chr21: 45,239,088-45,240,037 , GRCh37.p13 chr21: 46,659,003-46,659,952 LINC00334
    nsv5321037copy number variation1nstd204human GRCh38.p13 chr21: 45,253,867-45,254,126 , GRCh37.p13 chr21: 46,673,782-46,674,041 LINC00334
    nsv5040939copy number variation1nstd200human GRCh38 chr21: 45,236,538-45,243,285 , GRCh37.p13 chr21: 46,656,453-46,663,200 LINC00334
    nsv5034059copy number variation1nstd200human GRCh38 chr21: 45,239,460-45,247,180 , GRCh37.p13 chr21: 46,659,375-46,667,095 LINC00334
    nsv5030155copy number variation1nstd200human GRCh38 chr21: 45,145,659-45,425,181 , GRCh37.p13 chr21: 46,565,574-46,845,096 , COL18A1-AS1, 10 more genes
    nsv4869307copy number variation1nstd200human GRCh37 chr21: 46,565,574-46,845,096 , GRCh38.p12 chr21: 45,145,659-45,425,181 , LINC00334, 10 more genes
    nsv4863480copy number variation1nstd200human GRCh37 chr21: 46,659,375-46,667,095 , GRCh38.p12 chr21: 45,239,460-45,247,180 LINC00334
    nsv4863479copy number variation1nstd200human GRCh37 chr21: 46,659,028-46,659,931 , GRCh38.p12 chr21: 45,239,113-45,240,016 LINC00334
    nsv4759346insertion1nstd199human GRCh37 chr21: 46,673,759-46,673,759 , GRCh38.p12 chr21: 45,253,844-45,253,844 LINC00334
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 SLC19A1, LINC03039, 183 more genes
    nsv4676273copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,866,973-48,097,372 , GRCh38.p12 chr21: 44,447,090-46,677,460 COL18A1-AS2, RPL18AP2, 79 more genes
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