A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591601



Internal ID16379010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128409411..128462934hg38UCSC Ensembl
Innerchr3:128128254..128181777hg19UCSC Ensembl
Innerchr3:129610944..129664467hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3853524
hg1953524
hg1853524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8565n54
Supporting Variantsnssv972964
Samples
Known GenesDNAJB8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591601
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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