A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594802



Internal ID16035525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88007586..88008267hg38UCSC Ensembl
Innerchr4:88928738..88929419hg19UCSC Ensembl
Innerchr4:89147762..89148443hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9155n54
Supporting Variantsnssv1002790
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594802
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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