A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511649



Internal ID15851074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23683585..23685350hg38UCSC Ensembl
Outerchr22:23683564..23687459hg38UCSC Ensembl
Innerchr22:24025772..24027537hg19UCSC Ensembl
Outerchr22:24025751..24029646hg19UCSC Ensembl
Innerchr22:22355772..22357537hg18UCSC Ensembl
Outerchr22:22355751..22359646hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg383896
hg193896
hg183896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626284
Samples1
Known GenesGUSBP11
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511649
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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