A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9154n54



Internal ID20142578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88007500..88008267hg38UCSC Ensembl
chr4:88928652..88929419hg19UCSC Ensembl
chr4:89147676..89148443hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38768
hg19768
hg18768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594799, nsv594798
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9154n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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