A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512212



Internal ID15504951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11853511..11855017hg38UCSC Ensembl
Outerchr11:11875058..11876564hg19UCSC Ensembl
Outerchr11:11831634..11833140hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381507
hg191507
hg181507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624781
Samples1
Known GenesUSP47
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512212
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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