A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591599



Internal ID16379008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128408800..128463535hg38UCSC Ensembl
Innerchr3:128127643..128182378hg19UCSC Ensembl
Innerchr3:129610333..129665068hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3854736
hg1954736
hg1854736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8565n54
Supporting Variantsnssv1151796
SamplesHGDP00545
Known GenesDNAJB8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591599
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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