A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4014251



Internal ID22075882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54236287..54241451hg38UCSC Ensembl
Outerchr4:54227808..54249536hg38UCSC Ensembl
Innerchr4:55102454..55107618hg19UCSC Ensembl
Outerchr4:55093975..55115703hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3821729
hg1921729
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156159
Supporting Variants
Samples
Known GenesPDGFRA
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4014251
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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