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Items: 1 to 20 of 271

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5544801copy number variation1nstd206human GRCh38 chr21: 44,916,474-44,942,268 , GRCh37.p13 chr21: 46,336,389-46,362,183 , ITGB2, 3 more genes
    nsv5286346copy number variation1nstd204human GRCh37.p13 chr21: 46,255,916-46,410,915 , GRCh38.p13 chr21: 44,836,001-44,991,000 , PTTG1IP, 7 more genes
    nsv5031310copy number variation1nstd200human GRCh38 chr21: 44,910,276-45,015,823 , GRCh37.p13 chr21: 46,330,191-46,435,738 , LINC01547, 7 more genes
    nsv5030094copy number variation1nstd200human GRCh38 chr21: 44,861,103-45,010,086 , GRCh37.p13 chr21: 46,281,018-46,430,001 , ITGB2-AS1, 8 more genes
    nsv4865892copy number variation1nstd200human GRCh37 chr21: 46,281,018-46,430,001 , GRCh38.p12 chr21: 44,861,103-45,010,086 , LINC00163, 8 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
    nsv4729752copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,321,547-46,556,804 , GRCh38.p12 chr21: 44,901,632-45,136,889 ITGB2-AS1, SSR4P1, 8 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
    nsv4676291copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,297,745-46,410,660 , GRCh38.p12 chr21: 44,877,830-44,990,745 LOC107987303, LINC01547, 4 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
    nsv4676248copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,996,567-46,593,248 , GRCh38.p12 chr21: 44,576,690-45,173,333 KRTAP10-6, SUMO3, 28 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
    nsv4626311copy number variation1nstd183human GRCh37 chr21: 46,312,194-46,630,042 , GRCh38.p12 chr21: 44,892,279-45,210,127 , LINC00163, 11 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
    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
    nsv4436256copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,627,837-46,920,235 , GRCh38.p12 chr21: 43,207,727-45,500,321 LINC03039, SIK1, 91 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
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