A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591348



Internal ID16378757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:117584524..117729467hg38UCSC Ensembl
Innerchr3:117303371..117448314hg19UCSC Ensembl
Innerchr3:118786061..118931004hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38144944
hg19144944
hg18144944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152531
SamplesHGDP01361
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591348
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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