A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595475



Internal ID16036198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:134001210..134245328hg38UCSC Ensembl
Innerchr4:134922365..135166483hg19UCSC Ensembl
Innerchr4:135141815..135385933hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38244119
hg19244119
hg18244119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9275n54
Supporting Variantsnssv1006921
Samples
Known GenesPABPC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595475
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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