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Items: 1 to 20 of 205

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980234inversion1nstd209human GRCh38 chr2: 130,052,690-131,284,721 , GRCh37.p13 chr2: 130,810,263-132,042,294 , PTPN18, 55 more genes
    nsv5968094inversion1nstd209human GRCh38 chr2: 130,018,896-131,305,572 , GRCh37.p13 chr2: 130,776,469-132,063,145 , PTPN18, 61 more genes
    nsv5890154copy number variation1nstd209human GRCh38 chr2: 130,754,910-130,754,969 , GRCh37.p13 chr2: 131,512,483-131,512,542 AMER3
    nsv5665937inversion1nstd207human GRCh38 chr2: 130,138,213-131,531,319 , GRCh37.p13 chr2: 130,895,786-132,288,892 , GNAQP1, 84 more genes
    nsv5567541copy number variation1nstd207human GRCh38 chr2: 130,754,910-130,754,969 , GRCh37.p13 chr2: 131,512,483-131,512,542 AMER3
    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
    nsv5447386copy number variation1nstd206human GRCh38 chr2: 130,754,914-130,754,970 , GRCh37.p13 chr2: 131,512,487-131,512,543 AMER3
    nsv5327037inversion1nstd204human GRCh37.p13 chr2: 130,942,902-132,247,079 , GRCh38.p13 chr2: 130,185,329-131,489,506 , PTPN18, 79 more genes
    nsv5215218copy number variation1nstd204human GRCh38.p13 chr2: 130,716,876-130,757,024 , GRCh37.p13 chr2: 131,474,449-131,514,597 AMER3, GPR148
    nsv5068693mobile element insertion1nstd203human GRCh38 chr2: 130,753,669-130,753,681 , GRCh37.p13 chr2: 131,511,242-131,511,254 AMER3
    nsv5037689inversion1nstd200human GRCh38 chr2: 130,226,386-131,459,405 , GRCh37.p13 chr2: 130,983,959-132,216,978 , MTND6P10, 73 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
    nsv4889214inversion1nstd200human GRCh37 chr2: 130,983,959-132,216,978 , GRCh38.p12 chr2: 130,226,386-131,459,405 , KLF2P2, 73 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4728442copy number variation1nstd102humanLikely benign GRCh37 chr2: 131,441,737-131,738,211 , GRCh38.p12 chr2: 130,684,164-130,980,638 ARHGEF4, AMER3, 5 more genes
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4674120copy number variation1nstd102humanUncertain significance GRCh37 chr2: 131,477,947-132,280,823 , GRCh38.p12 chr2: 130,720,374-131,523,250 RHOQP2, MTND4P21, 42 more genes
    nsv4583576copy number variation1nstd183human GRCh37 chr2: 131,478,507-131,923,914 , GRCh38.p12 chr2: 130,720,934-131,166,341 ARHGEF4, PLEKHB2, 4 more genes
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