A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594798



Internal ID16035521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88007500..88008213hg38UCSC Ensembl
Innerchr4:88928652..88929365hg19UCSC Ensembl
Innerchr4:89147676..89148389hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38714
hg19714
hg18714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9154n54
Supporting Variantsnssv1002778
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594798
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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