A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594804



Internal ID16035527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88007741..88008319hg38UCSC Ensembl
Innerchr4:88928893..88929471hg19UCSC Ensembl
Innerchr4:89147917..89148495hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38579
hg19579
hg18579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002793
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594804
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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