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Items: 1 to 20 of 122

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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
    nsv5361328translocation1nstd200human GRCh38 chr2: 218,831,242-218,831,242 , GRCh38 chr2: 218,831,173-218,831,173 , GRCh37.p13 chr2: 219,695,965-219,695,965 , GRCh37.p13 chr2: 219,695,896-219,695,896 PRKAG3
    nsv5361327translocation1nstd200human GRCh38 chr2: 218,822,441-218,822,441 , GRCh38 chr2: 218,822,504-218,822,504 , GRCh37.p13 chr2: 219,687,227-219,687,227 , GRCh37.p13 chr2: 219,687,164-219,687,164 PRKAG3, MIR9500
    nsv5342876translocation1nstd200human GRCh37 chr2: 219,695,896-219,695,896 , GRCh37 chr2: 219,695,965-219,695,965 , GRCh38.p12 chr2: 218,831,242-218,831,242 , GRCh38.p12 chr2: 218,831,173-218,831,173 PRKAG3
    nsv5339084translocation1nstd200human GRCh37 chr2: 219,687,227-219,687,227 , GRCh37 chr2: 219,687,164-219,687,164 , GRCh38.p12 chr2: 218,822,504-218,822,504 , GRCh38.p12 chr2: 218,822,441-218,822,441 PRKAG3, MIR9500
    nsv5182549mobile element insertion1nstd203human GRCh38 chr2: 218,829,011-218,829,011 , GRCh37.p13 chr2: 219,693,734-219,693,734 PRKAG3
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    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
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4465647mobile element insertion1nstd166human GRCh37.p13 chr2: 219,683,674-219,683,674 , GRCh38.p12 chr2: 218,818,951-218,818,951 , PRKAG3
    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
    nsv4347291copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 218,271,898-219,825,640 , GRCh38.p12 chr2: 217,407,175-218,960,918 AAMP, BCS1L, 51 more genes
    nsv4341054sequence alteration1nstd166human GRCh37.p13 chr2: 219,645,588-219,974,461 , GRCh38.p12 chr2: 218,780,865-219,109,739 , PRKAG3, 22 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
    nsv4073662copy number variation1nstd166human GRCh37.p13 chr2: 219,680,621-219,683,122 , GRCh38.p12 chr2: 218,815,898-218,818,399 , PRKAG3
    nsv3966304insertion1nstd168human GRCh38 chr2: 218,829,244-218,863,167 , GRCh37.p13 chr2: 219,693,967-219,727,890 WNT6, PRKAG3, 1 more genes
    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
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