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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7044064inversion1nstd229human GRCh38 chr2: 112,019,946-120,004,832 , GRCh37.p13 chr2: 112,777,523-120,762,408 LOC105373563, IL1A, 112 more genes
    nsv7042586inversion1nstd229human GRCh38 chr2: 111,572,275-118,829,502 , GRCh37.p13 chr2: 112,329,852-119,587,078 LOC105373579, NT5DC4, 103 more genes
    nsv6689960copy number variation1nstd229human GRCh38 chr2: 112,531,901-112,652,700 , GRCh37.p13 chr2: 113,289,478-113,410,277 TTL, RPS20P11, 7 more genes
    nsv6686017copy number variation1nstd229human GRCh38 chr2: 112,584,570-112,584,638 , GRCh37.p13 chr2: 113,342,147-113,342,215 CHCHD5, LOC101927330
    nsv6681408copy number variation1nstd229human GRCh38 chr2: 112,581,413-112,581,566 , GRCh37.p13 chr2: 113,338,990-113,339,143 LOC101927330
    nsv6679585copy number variation1nstd229human GRCh38 chr2: 112,543,201-112,584,200 , GRCh37.p13 chr2: 113,300,778-113,341,777 POLR1B, LOC101927330, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6313770copy number variation1nstd102humanPathogenic GRCh37 chr2: 113,188,197-128,144,700 , GRCh38.p12 chr2: 112,430,620-127,387,124 LOC105373575, RPS20P11, 174 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6291237copy number variation1nstd102humanUncertain significance GRCh37 chr2: 113,295,194-114,085,649 , GRCh38.p12 chr2: 112,537,617-113,328,072 CKAP2L, LOC105373567, 30 more genes
    nsv6282949insertion1nstd214human GRCh38 chr2: 112,581,439-112,581,439 , GRCh37.p13 chr2: 113,339,016-113,339,016 LOC101927330
    nsv5899050copy number variation1nstd209human GRCh38 chr2: 112,543,345-112,673,811 , GRCh37.p13 chr2: 113,300,922-113,431,388 SLC20A1, POLR1B, 6 more genes
    nsv5893846copy number variation1nstd209human GRCh38 chr2: 112,584,570-112,584,637 , GRCh37.p13 chr2: 113,342,147-113,342,214 LOC101927330, CHCHD5
    nsv5830899copy number variation1nstd209human GRCh38 chr2: 112,571,685-112,589,089 , GRCh37.p13 chr2: 113,329,262-113,346,666 CHCHD5, POLR1B, 1 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5448416copy number variation1nstd206human GRCh38 chr2: 112,584,572-112,584,638 , GRCh37.p13 chr2: 113,342,149-113,342,215 CHCHD5, LOC101927330
    nsv5446684copy number variation1nstd206human GRCh38 chr2: 112,581,439-112,581,527 , GRCh37.p13 chr2: 113,339,016-113,339,104 LOC101927330
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