A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594801



Internal ID16035524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88007500..88009689hg38UCSC Ensembl
Innerchr4:88928652..88930841hg19UCSC Ensembl
Innerchr4:89147676..89149865hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg382190
hg192190
hg182190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002788, nssv1002789
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594801
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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