A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv498n100



Internal ID20152114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192992568..193114915hg38UCSC Ensembl
chr1:192961698..193084045hg19UCSC Ensembl
chr1:191228321..191350668hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38122348
hg19122348
hg18122348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998429, nsv1002094
Samples
Known GenesGLRX2, TROVE2, UCHL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv498n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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