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Items: 1 to 20 of 258

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5293669copy number variation1nstd204human GRCh38.p13 chr21: 45,549,801-45,728,000 , GRCh37.p13 chr21: 46,969,715-47,147,914 PCBP3, LOC107985485, 2 more genes
    nsv5283727copy number variation1nstd204human GRCh38.p13 chr21: 45,340,701-45,595,700 , GRCh37.p13 chr21: 46,760,616-47,015,614 , MIR6815, 10 more genes
    nsv5033759copy number variation1nstd200human GRCh38 chr21: 45,541,147-45,648,122 , GRCh37.p13 chr21: 46,961,061-47,068,036 SLC19A1, LINC01694, 2 more genes
    nsv4865895copy number variation1nstd200human GRCh37 chr21: 46,961,061-47,068,036 , GRCh38.p12 chr21: 45,541,147-45,648,122 PCBP3, LOC107985485, 2 more genes
    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
    nsv4676403copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 46,749,869-48,097,372 , GRCh38.p12 chr21: 45,329,954-46,677,460 COL6A1, COL6A2, 34 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
    nsv4676266copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,125,672-48,097,372 , GRCh38.p12 chr21: 43,705,791-46,677,460 LOC105372826, ADARB1, 107 more genes
    nsv4676152copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 45,490,774-48,097,372 , GRCh38.p12 chr21: 44,070,893-46,677,460 ADARB1, AIRE, 93 more genes
    nsv4457803copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,310,057-47,503,155 , GRCh38.p12 chr21: 42,889,947-46,083,241 SLX9, PICSAR, 114 more genes
    nsv4457663copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,749,759-47,243,074 , GRCh38.p12 chr21: 45,329,844-45,823,160 LINC01694, PCBP3, 10 more genes
    nsv4457380copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,933,276-47,155,361 , GRCh38.p12 chr21: 45,513,362-45,735,447 PCBP3, LOC107985485, 3 more genes
    nsv4436706complex substitution1nstd102humanUncertain significance GRCh38.p12 chr21: 44,550,835-46,125,912 , GRCh37 chr21: 45,970,718-47,545,826 ADARB1, PTTG1IP, 53 more genes
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
    nsv4382575copy number variation2nstd173human GRCh37 chr21: 15,006,458-48,097,372 , GRCh38.p12 chr21: 13,634,137-46,677,460 , CBR3-AS1, 639 more genes
    nsv4378831copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , LOC105369299, 639 more genes
    nsv4375125copy number variation1nstd173human GRCh37 chr21: 46,740,019-48,097,384 , GRCh38.p12 chr21: 45,320,104-46,677,472 , DIP2A-IT1, 36 more genes
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