A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511233



Internal ID15503972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449222..47451848hg38UCSC Ensembl
Outerchr3:47443307..47452667hg38UCSC Ensembl
Innerchr3:47490712..47493338hg19UCSC Ensembl
Outerchr3:47484797..47494157hg19UCSC Ensembl
Innerchr3:47465716..47468342hg18UCSC Ensembl
Outerchr3:47459801..47469161hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg389361
hg199361
hg189361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624489
Samples1
Known GenesSCAP
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511233
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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