A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592503



Internal ID16379912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:168581405..168699406hg38UCSC Ensembl
Innerchr3:168299193..168417194hg19UCSC Ensembl
Innerchr3:169781887..169899888hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38118002
hg19118002
hg18118002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv981211
Samples
Known GenesEGFEM1P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592503
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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