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Items: 1 to 20 of 112

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5726236mobile element insertion2nstd211human GRCh38 chr2: 210,619,107-210,619,107 , GRCh37.p13 chr2: 211,483,831-211,483,831 CPS1, CPS1-IT1
    nsv5673376copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,441,050-211,542,729 , GRCh38.p12 chr2: 210,576,326-210,678,005 CPS1, CPS1-IT1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5174637mobile element insertion1nstd203human GRCh38 chr2: 210,619,098-210,619,107 , GRCh37.p13 chr2: 211,483,822-211,483,831 CPS1-IT1, CPS1
    nsv4795767copy number variation1nstd200human GRCh37 chr2: 211,483,610-211,490,908 , GRCh38.p12 chr2: 210,618,886-210,626,184 CPS1, CPS1-IT1
    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
    nsv4567921mobile element insertion1nstd166human GRCh37.p13 chr2: 211,483,822-211,483,822 , GRCh38.p12 chr2: 210,619,098-210,619,098 CPS1, CPS1-IT1
    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
    nsv4086989copy number variation1nstd166human GRCh37.p13 chr2: 211,483,610-211,490,908 , GRCh38.p12 chr2: 210,618,886-210,626,184 CPS1-IT1, CPS1
    nsv4072671copy number variation1nstd166human GRCh37.p13 chr2: 211,203,967-211,546,556 , GRCh38.p12 chr2: 210,339,243-210,681,832 CPS1, LANCL1, 2 more genes
    nsv3966011copy number variation1nstd168human GRCh38 chr2: 210,603,775-210,627,812 , GRCh37.p13 chr2: 211,468,499-211,492,536 CPS1-IT1, CPS1
    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
    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
    nsv3920759copy number variation1nstd102humanUncertain significance NCBI36 chr2: 210,969,948-211,609,745 , GRCh37.p13 chr2: 211,261,703-211,901,500 , GRCh38.p12 chr2: 210,396,979-211,036,776 CPS1, LANCL1-AS1, 3 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
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