A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511238



Internal ID15503977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101039102..101039721hg38UCSC Ensembl
Outerchr4:101038938..101044138hg38UCSC Ensembl
Innerchr4:101960259..101960878hg19UCSC Ensembl
Outerchr4:101960095..101965295hg19UCSC Ensembl
Innerchr4:102179282..102179901hg18UCSC Ensembl
Outerchr4:102179118..102184318hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg385201
hg195201
hg185201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624544
Samples1
Known GenesPPP3CA
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511238
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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