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Items: 1 to 20 of 316

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5967119copy number variation1nstd209human GRCh38 chr21: 45,264,637-45,264,686 , GRCh37.p13 chr21: 46,684,552-46,684,601 POFUT2
    nsv5964873copy number variation1nstd209human GRCh38 chr21: 45,280,658-45,280,799 , GRCh37.p13 chr21: 46,700,573-46,700,714 POFUT2
    nsv5963886copy number variation1nstd209human GRCh38 chr21: 45,287,202-45,287,430 , GRCh37.p13 chr21: 46,707,117-46,707,345 POFUT2, LINC00205
    nsv5951981copy number variation1nstd209human GRCh38 chr21: 45,267,017-45,267,075 , GRCh37.p13 chr21: 46,686,932-46,686,990 POFUT2
    nsv5545130copy number variation1nstd206human GRCh38 chr21: 45,267,768-45,267,934 , GRCh37.p13 chr21: 46,687,683-46,687,849 POFUT2
    nsv5034832copy number variation1nstd200human GRCh38 chr21: 45,273,894-45,285,690 , GRCh37.p13 chr21: 46,693,809-46,705,605 POFUT2
    nsv5030155copy number variation1nstd200human GRCh38 chr21: 45,145,659-45,425,181 , GRCh37.p13 chr21: 46,565,574-46,845,096 , COL18A1-AS1, 10 more genes
    nsv4869307copy number variation1nstd200human GRCh37 chr21: 46,565,574-46,845,096 , GRCh38.p12 chr21: 45,145,659-45,425,181 , LINC00334, 10 more genes
    nsv4739366copy number variation1nstd199human GRCh37 chr21: 46,688,726-46,688,780 , GRCh38.p12 chr21: 45,268,811-45,268,865 POFUT2
    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
    nsv4708122translocation1nstd195human GRCh37 chr7: 125,858,824-125,858,824 , GRCh37 chr21: 46,684,129-46,684,129 , GRCh38.p12 chr21: 45,264,214-45,264,214 , GRCh38.p12 chr7: 126,218,770-126,218,770 POFUT2
    nsv4705234translocation1nstd195human GRCh37 chr7: 125,858,823-125,858,823 , GRCh37 chr21: 46,684,129-46,684,129 , GRCh38.p12 chr21: 45,264,214-45,264,214 , GRCh38.p12 chr7: 126,218,769-126,218,769 POFUT2
    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
    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
    nsv4676142copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,597,460-46,933,696 , GRCh38.p12 chr21: 45,177,545-45,513,782 COL18A1-AS2, SLC19A1, 11 more genes
    nsv4536933copy number variation1nstd166human GRCh37.p13 chr21: 46,661,199-46,840,500 , GRCh38.p12 chr21: 45,241,284-45,420,585 , COL18A1-AS1, 9 more genes
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