A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591040



Internal ID16031763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:96813383..96815051hg38UCSC Ensembl
Innerchr3:96532227..96533895hg19UCSC Ensembl
Innerchr3:98014917..98016585hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381669
hg191669
hg181669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8453n54
Supporting Variantsnssv968105
Samples
Known GenesEPHA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591040
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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