A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9102n54



Internal ID20142526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68494621..68587178hg38UCSC Ensembl
chr4:69360339..69452896hg19UCSC Ensembl
chr4:69042934..69135491hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3892558
hg1992558
hg1892558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594515, nsv594518, nsv594517, nsv594507
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9102n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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