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Items: 1 to 20 of 113

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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
    nsv6535670inversion1nstd223human GRCh38 chr2: 112,827,049-112,827,804 , GRCh37.p13 chr2: 113,584,626-113,585,381 IL1B
    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
    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
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4781715copy number variation1nstd200human GRCh37 chr2: 113,560,676-113,586,042 , GRCh38.p12 chr2: 112,803,099-112,828,465 IL1B
    nsv4743379copy number variation1nstd199human GRCh37 chr2: 88,481,090-124,440,189 , GRCh38.p12 chr9: 40,649,751-63,450,622 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 88,181,571-123,682,613 , EIF2AK3, 861 more genes
    nsv4678911copy number variation1nstd189human GRCh37.p13 chr2: 113,187,756-113,851,517 , GRCh38.p12 chr2: 112,430,179-113,093,940 IL1A, IL1B, 25 more genes
    nsv4074291copy number variation1nstd166human GRCh37.p13 chr2: 113,560,646-113,586,000 , GRCh38.p12 chr2: 112,803,069-112,828,423 IL1B
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3921207copy number variation1nstd102humanPathogenic NCBI36 chr2: 110,857,227-116,449,787 , GRCh37.p13 chr2: 111,334,455-116,733,317 , GRCh38.p12 chr2: 110,576,878-115,975,741 RABL2A, RPL34P8, 98 more genes
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