A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511259



Internal ID15503998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86055260..86058774hg38UCSC Ensembl
Outerchr4:86045174..86062079hg38UCSC Ensembl
Innerchr4:86976413..86979927hg19UCSC Ensembl
Outerchr4:86966327..86983232hg19UCSC Ensembl
Innerchr4:87195437..87198951hg18UCSC Ensembl
Outerchr4:87185351..87202256hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3816906
hg1916906
hg1816906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624777
Samples1
Known GenesMAPK10
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511259
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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