A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513343



Internal ID15506079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133082055..133083102hg38UCSC Ensembl
Outerchr11:132951950..132952997hg19UCSC Ensembl
Outerchr11:132457160..132458207hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38953
hg19953
hg18953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625735
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)nsv513343
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer