A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593500



Internal ID16380909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6400283..6458812hg38UCSC Ensembl
Innerchr4:6402010..6460539hg19UCSC Ensembl
Innerchr4:6452911..6511440hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3858530
hg1958530
hg1858530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989320
Samples
Known GenesPPP2R2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593500
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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