A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512222



Internal ID15851647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47035783..47042830hg38UCSC Ensembl
Outerchr11:47057334..47064381hg19UCSC Ensembl
Outerchr11:47013910..47020957hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387048
hg197048
hg187048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624792
Samples1
Known GenesC11orf49
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512222
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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