A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594803



Internal ID16035526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88007586..88008319hg38UCSC Ensembl
Innerchr4:88928738..88929471hg19UCSC Ensembl
Innerchr4:89147762..89148495hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9155n54
Supporting Variantsnssv1002791, nssv1002792
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594803
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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