A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511403



Internal ID15850828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:113028296..113033208hg38UCSC Ensembl
Outerchr8:113017192..113044364hg38UCSC Ensembl
Innerchr8:114040525..114045437hg19UCSC Ensembl
Outerchr8:114029421..114056593hg19UCSC Ensembl
Innerchr8:114109701..114114613hg18UCSC Ensembl
Outerchr8:114098597..114125769hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3827173
hg1927173
hg1827173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626011
Samples1
Known GenesCSMD3
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511403
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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