A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591039



Internal ID16031762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:96813383..96814977hg38UCSC Ensembl
Innerchr3:96532227..96533821hg19UCSC Ensembl
Innerchr3:98014917..98016511hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8453n54
Supporting Variantsnssv968104
Samples
Known GenesEPHA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591039
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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