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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099189copy number variation1nstd231human GRCh38.p12 chr1: 27,937,767-28,509,967 , GRCh37 chr1: 28,264,278-28,836,479 RCC1, EYA3, 17 more genes
    nsv7049673inversion1nstd229human GRCh38 chr1: 28,323,002-28,343,511 , GRCh37.p13 chr1: 28,649,513-28,670,022 MED18
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv7040370inversion1nstd229human GRCh38 chr1: 28,324,061-28,688,380 , GRCh37.p13 chr1: 28,650,572-29,014,892 PHACTR4, SNORD99, 17 more genes
    nsv6648150copy number variation1nstd229human GRCh38 chr1: 28,325,811-28,336,558 , GRCh37.p13 chr1: 28,652,322-28,663,069 MED18
    nsv6647887copy number variation1nstd229human GRCh38 chr1: 28,326,504-28,328,612 , GRCh37.p13 chr1: 28,653,015-28,655,123 MED18
    nsv6626373copy number variation1nstd224human GRCh37 chr1: 28,598,287-28,661,422 , GRCh38.p12 chr1: 28,271,776-28,334,911 , GRCh38.p12 chr1|NW_018654706.1: 65,420-128,555 MED18, SESN2
    nsv6324099copy number variation1nstd223human GRCh38 chr1: 28,330,213-28,331,183 , GRCh37.p13 chr1: 28,656,724-28,657,694 MED18
    nsv6319345copy number variation1nstd223human GRCh38 chr1: 28,326,504-28,328,608 , GRCh37.p13 chr1: 28,653,015-28,655,119 MED18
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv6290388copy number variation1nstd102humanUncertain significance GRCh37 chr1: 28,493,687-29,242,679 , GRCh38.p12 chr1: 28,167,176-28,916,167 SNORA16A, MED18, 24 more genes
    nsv6133648copy number variation1nstd213human GRCh37 chr1: 23,300,000-28,930,001 , GRCh38.p12 chr1: 22,973,507-28,603,489 RUNX3, CD52, 195 more genes
    nsv6051016insertion1nstd212human GRCh38 chr1: 28,332,716-28,332,716 , GRCh37.p13 chr1: 28,659,227-28,659,227 MED18
    nsv5413930copy number variation1nstd206human GRCh38 chr1: 28,326,481-28,328,631 , GRCh37.p13 chr1: 28,652,992-28,655,142 MED18
    nsv5350657translocation1nstd200human GRCh38 chr1: 28,326,504-28,326,504 , GRCh38 chr1: 28,328,608-28,328,608 , GRCh37.p13 chr1: 28,653,015-28,653,015 , GRCh37.p13 chr1: 28,655,119-28,655,119 MED18
    nsv5344659translocation1nstd200human GRCh37 chr1: 28,655,119-28,655,119 , GRCh37 chr1: 28,653,015-28,653,015 , GRCh38.p12 chr1|NW_018654706.1: 122,252-122,252 , GRCh38.p12 chr1: 28,328,608-28,328,608 , GRCh38.p12 chr1|NW_018654706.1: 120,148-120,148 , GRCh38.p12 chr1: 28,326,504-28,326,504 MED18
    nsv5212241copy number variation1nstd204human GRCh38.p13 chr1: 28,084,401-28,971,400 , GRCh37.p13 chr1: 28,410,912-29,297,912 SNORA73B, ARL8BP2, 29 more genes
    nsv4903274copy number variation1nstd200human GRCh38 chr1: 28,330,203-28,331,229 , GRCh37.p13 chr1: 28,656,714-28,657,740 MED18
    nsv4903273copy number variation1nstd200human GRCh38 chr1: 28,327,791-28,332,097 , GRCh37.p13 chr1: 28,654,302-28,658,608 MED18
    nsv4895601copy number variation1nstd200human GRCh38 chr1: 28,334,943-28,338,454 , GRCh37.p13 chr1: 28,661,454-28,664,965 MED18
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