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Items: 1 to 20 of 228

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5951500copy number variation1nstd209human GRCh38 chr21: 37,005,030-37,005,345 , GRCh37.p13 chr21: 38,377,330-38,377,645 RIPPLY3
    nsv5564408copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,833,274-39,212,984 , GRCh38.p12 chr21: 36,460,976-37,840,682 TTC3-AS1, LOC105372798, 23 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5028965copy number variation1nstd200human GRCh38 chr21: 37,007,973-37,008,050 , GRCh37.p13 chr21: 38,380,273-38,380,350 RIPPLY3
    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
    nsv4676412copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,137,049-38,486,344 , GRCh38.p12 chr21: 36,764,748-37,114,044 HLCS, TTC3, 7 more genes
    nsv4457747copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,131,532-38,403,979 , GRCh38.p12 chr21: 36,759,231-37,031,679 DPRXP5, RIPPLY3, 4 more genes
    nsv4457402copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,385,744-38,450,578 , GRCh38.p12 chr21: 37,013,444-37,078,278 TTC3, RNU6-696P, 2 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
    nsv4369498copy number variation1nstd173human GRCh37 chr21: 15,547,727-45,685,800 , GRCh38.p12 chr21: 14,175,406-44,265,917 , LINC00114, 520 more genes
    nsv4368328copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,382 , GRCh38.p12 chr21: 13,634,137-46,677,470 , DNMT3L, 639 more genes
    nsv4367905copy number variation1nstd173human GRCh37 chr21: 15,255,805-48,097,372 , GRCh38.p12 chr21: 13,883,484-46,677,460 , LINC00205, 623 more genes
    nsv3924469copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,916,169-41,365,265 , NCBI36 chr21: 35,838,039-40,287,135 , GRCh38 chr21: 35,543,872-39,993,338 LOC105372802, MIR802, 96 more genes
    nsv3924461copy number variation1nstd102humanPathogenic NCBI36 chr21: 37,006,673-37,703,001 , GRCh37 chr21: 38,084,803-38,781,131 , GRCh38 chr21: 36,712,503-37,408,829 RNA5SP491, RN7SL678P, 13 more genes
    nsv3923218copy number variation3nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,623,792 , NCBI36 chr21: 13,550,934-46,868,132 , GRCh37 chr21: 14,629,063-48,043,704 CHODL-AS1, VN1R109P, 683 more genes
    nsv3923176copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352 COL18A1-AS2, RCAN1, 682 more genes
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