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Items: 1 to 20 of 299

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130665insertion1nstd186human GRCh37 chr21: 46,421,530-46,421,581 , GRCh38.p12 chr21: 45,001,615-45,001,666 PICSAR
    nsv5958679copy number variation1nstd209human GRCh38 chr21: 45,004,490-45,004,546 , GRCh37.p13 chr21: 46,424,405-46,424,461 PICSAR
    nsv5951042copy number variation1nstd209human GRCh38 chr21: 45,002,013-45,002,524 , GRCh37.p13 chr21: 46,421,928-46,422,439 PICSAR
    nsv5535856insertion1nstd206human GRCh38 chr21: 45,001,615-45,001,666 , GRCh37.p13 chr21: 46,421,530-46,421,581 PICSAR
    nsv5039309copy number variation1nstd200human GRCh38 chr21: 44,976,700-44,997,414 , GRCh37.p13 chr21: 46,396,615-46,417,328 PICSAR, SLX9, 1 more genes
    nsv5038262copy number variation1nstd200human GRCh38 chr21: 45,002,013-45,002,534 , GRCh37.p13 chr21: 46,421,928-46,422,449 PICSAR
    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
    nsv4863471copy number variation1nstd200human GRCh37 chr21: 46,421,928-46,422,449 , GRCh38.p12 chr21: 45,002,013-45,002,534 PICSAR
    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
    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
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