A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593497



Internal ID16380906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6254902..6301627hg38UCSC Ensembl
Innerchr4:6256629..6303354hg19UCSC Ensembl
Innerchr4:6307530..6354255hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3846726
hg1946726
hg1846726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8933n54
Supporting Variantsnssv1152595
SamplesHGDP01190
Known GenesWFS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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