A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513342



Internal ID15506078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133027768..133027781hg38UCSC Ensembl
Outerchr11:132897663..132897676hg19UCSC Ensembl
Outerchr11:132402873..132402886hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381252
hg191252
hg181252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625733
Samples1
Known GenesOPCML
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513342
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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