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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
    nsv5966237copy number variation1nstd209human GRCh38 chr21: 36,388,481-36,388,577 , GRCh37.p13 chr21: 37,760,779-37,760,875 ATP5MFP1, CHAF1B
    nsv5961682copy number variation1nstd209human GRCh38 chr21: 36,403,442-36,407,288 , GRCh37.p13 chr21: 37,775,740-37,779,586 CHAF1B
    nsv5874947copy number variation1nstd209human GRCh38 chr21: 36,404,683-36,407,309 , GRCh37.p13 chr21: 37,776,981-37,779,607 CHAF1B
    nsv5713977mobile element insertion1nstd211human GRCh38 chr21: 36,402,454-36,402,454 , GRCh37.p13 chr21: 37,774,752-37,774,752 CHAF1B
    nsv5664624insertion1nstd207human GRCh38 chr21: 36,401,352-36,401,352 , GRCh37.p13 chr21: 37,773,650-37,773,650 CHAF1B
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5536708copy number variation1nstd206human GRCh38 chr21: 36,403,371-36,407,290 , GRCh37.p13 chr21: 37,775,669-37,779,588 CHAF1B
    nsv5536090copy number variation1nstd206human GRCh38 chr21: 36,388,481-36,388,586 , GRCh37.p13 chr21: 37,760,779-37,760,884 CHAF1B, ATP5MFP1
    nsv5379710translocation1nstd200human GRCh38 chr12: 46,381,557-46,381,557 , GRCh38 chr21: 36,404,561-36,404,561 , GRCh37.p13 chr21: 37,776,859-37,776,859 , GRCh37.p13 chr12: 46,775,340-46,775,340 CHAF1B
    nsv5288244copy number variation1nstd204human GRCh38.p13 chr21: 36,303,801-36,428,900 , GRCh37.p13 chr21: 37,676,099-37,801,198 CLDN14-AS1, MORC3, 3 more genes
    nsv5176369mobile element insertion1nstd203human GRCh38 chr21: 36,379,864-36,379,904 , GRCh37.p13 chr21: 37,752,162-37,752,202 CHAF1B
    nsv5174963mobile element insertion1nstd203human GRCh38 chr21: 36,379,904-36,379,904 , GRCh37.p13 chr21: 37,752,202-37,752,202 CHAF1B
    nsv5168425mobile element insertion1nstd203human GRCh38 chr21: 36,379,865-36,379,896 , GRCh37.p13 chr21: 37,752,163-37,752,194 CHAF1B
    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
    nsv4680885copy number variation1nstd189human GRCh37.p13 chr21: 37,392,036-37,802,705 , GRCh38.p12 chr21: 36,019,738-36,430,407 CBR1, CBR3, 17 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
    nsv4535684copy number variation1nstd166human GRCh37.p13 chr21: 37,764,798-37,764,926 , GRCh38.p12 chr21: 36,392,500-36,392,628 CHAF1B
    nsv4451892copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,133,458-38,311,203 , GRCh38.p12 chr21: 35,761,160-36,938,903 PPP1R2P2, CHAF1B, 30 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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