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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5447528copy number variation1nstd206human GRCh38 chr2: 210,296,658-210,297,033 , GRCh37.p13 chr2: 211,161,382-211,161,757 MYL1
    nsv5366803translocation1nstd200human GRCh38 chr4: 66,094,842-66,094,842 , GRCh38 chr2: 210,306,938-210,306,938 , GRCh37.p13 chr4: 66,960,560-66,960,560 , GRCh37.p13 chr2: 211,171,662-211,171,662 IFITM3P1, MYL1
    nsv5340743translocation1nstd200human GRCh37 chr4: 66,960,560-66,960,560 , GRCh37 chr2: 211,171,662-211,171,662 , GRCh38.p12 chr4: 66,094,842-66,094,842 , GRCh38.p12 chr2: 210,306,938-210,306,938 MYL1, IFITM3P1
    nsv4916598copy number variation1nstd200human GRCh38 chr2: 210,312,099-210,314,225 , GRCh37.p13 chr2: 211,176,823-211,178,949 MYL1
    nsv4913885copy number variation1nstd200human GRCh38 chr2: 210,276,692-210,341,002 , GRCh37.p13 chr2: 211,141,416-211,205,726 LANCL1-AS1, MYL1
    nsv4795764copy number variation1nstd200human GRCh37 chr2: 211,162,285-211,162,362 , GRCh38.p12 chr2: 210,297,561-210,297,638 MYL1
    nsv4795763copy number variation1nstd200human GRCh37 chr2: 211,147,866-211,155,618 , GRCh38.p12 chr2: 210,283,142-210,290,894 MYL1
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728545copy number variation1nstd102humanPathogenic GRCh37 chr2: 204,445,619-212,580,788 , GRCh38.p12 chr2: 203,580,896-211,716,063 FASTKD2, MYL6BP1, 110 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv4087446copy number variation1nstd166human GRCh37.p13 chr2: 211,147,866-211,155,617 , GRCh38.p12 chr2: 210,283,142-210,290,893 MYL1
    nsv4082579copy number variation1nstd166human GRCh37.p13 chr2: 211,178,356-211,201,815 , GRCh38.p12 chr2: 210,313,632-210,337,091 LANCL1-AS1, MYL1
    nsv4081105copy number variation1nstd166human GRCh37.p13 chr2: 211,157,530-211,163,558 , GRCh38.p12 chr2: 210,292,806-210,298,834 MYL1
    nsv4079887copy number variation1nstd166human GRCh37.p13 chr2: 211,161,382-211,161,757 , GRCh38.p12 chr2: 210,296,658-210,297,033 MYL1
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
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