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Items: 1 to 20 of 188

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881032copy number variation1nstd209human GRCh38 chr2: 3,515,507-3,515,556 , GRCh37.p13 chr2: 3,519,278-3,519,327 ADI1
    nsv5559561sequence alteration1nstd206human GRCh38 chr2: 3,368,479-3,534,951 , GRCh37.p13 chr2: 3,372,250-3,582,541 EIPR1, TRAPPC12, 3 more genes
    nsv5558756sequence alteration1nstd206human GRCh38 chr2: 3,515,543-3,515,572 , GRCh37.p13 chr2: 3,519,314-3,519,343 ADI1
    nsv5447305copy number variation1nstd206human GRCh38 chr2: 3,511,441-3,513,529 , GRCh37.p13 chr2: 3,515,212-3,517,300 ADI1
    nsv5444029copy number variation1nstd206human GRCh38 chr2: 3,494,693-3,495,748 , GRCh37.p13 chr2: 3,498,464-3,499,519 ADI1
    nsv5443118copy number variation1nstd206human GRCh38 chr2: 3,518,996-3,520,439 , GRCh37.p13 chr2: 3,522,767-3,524,210 ADI1
    nsv5374546translocation1nstd200human GRCh38 chr2: 3,494,747-3,494,747 , GRCh38 chr2: 3,495,742-3,495,742 , GRCh37.p13 chr2: 3,499,513-3,499,513 , GRCh37.p13 chr2: 3,498,518-3,498,518 ADI1
    nsv5357260translocation1nstd200human GRCh38 chr2: 3,513,615-3,513,615 , GRCh38 chr2: 3,517,474-3,517,474 , GRCh37.p13 chr2: 3,521,245-3,521,245 , GRCh37.p13 chr2: 3,517,386-3,517,386 ADI1
    nsv5060480mobile element insertion1nstd203human GRCh38 chr2: 3,508,334-3,508,360 , GRCh37.p13 chr2: 3,512,105-3,512,131 ADI1
    nsv4904715copy number variation1nstd200human GRCh38 chr2: 3,499,847-3,538,421 , GRCh37.p13 chr2: 3,503,618-3,586,011 ADI1, RNASEH1
    nsv4904714copy number variation1nstd200human GRCh38 chr2: 3,477,334-3,496,797 , GRCh37.p13 chr2: 3,481,105-3,500,568 ADI1, LOC112268321, 1 more genes
    nsv4904711copy number variation1nstd200human GRCh38 chr2: 3,358,584-3,733,756 , GRCh37.p13 chr2: 3,362,355-3,781,346 RNASEH1, TRAPPC12, 11 more genes
    nsv4904707copy number variation1nstd200human GRCh38 chr2: 3,210,314-3,523,349 , GRCh37.p13 chr2: 3,214,085-3,527,120 ADI1, LOC112268321, 2 more genes
    nsv4892075copy number variation1nstd200human GRCh38 chr2: 3,518,996-3,520,439 , GRCh37.p13 chr2: 3,522,767-3,524,210 ADI1
    nsv4892074copy number variation1nstd200human GRCh38 chr2: 3,511,468-3,513,517 , GRCh37.p13 chr2: 3,515,239-3,517,288 ADI1
    nsv4769994copy number variation1nstd200human GRCh37 chr2: 3,522,767-3,524,210 , GRCh38.p12 chr2: 3,518,996-3,520,439 ADI1
    nsv4769993copy number variation1nstd200human GRCh37 chr2: 3,515,239-3,517,288 , GRCh38.p12 chr2: 3,511,468-3,513,517 ADI1
    nsv4769992copy number variation1nstd200human GRCh37 chr2: 3,498,492-3,499,531 , GRCh38.p12 chr2: 3,494,721-3,495,760 , GRCh38.p12 chr2|NT_187522.1: 104,191-105,230 ADI1
    nsv4728726copy number variation1nstd102humanUncertain significance GRCh37 chr2: 2,529,149-5,511,339 , GRCh38.p12 chr2: 2,525,377-5,371,206 LOC107985840, COLEC11, 24 more genes
    nsv4728695copy number variation1nstd102humanUncertain significance GRCh37 chr2: 3,385,474-4,974,948 , GRCh38.p12 chr2: 3,381,703-4,927,358 LOC105373397, LOC105373394, 17 more genes
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