A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594797



Internal ID16035520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88003398..88012432hg38UCSC Ensembl
Innerchr4:88924550..88933584hg19UCSC Ensembl
Innerchr4:89143574..89152608hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg389035
hg199035
hg189035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002777
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594797
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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