A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513322



Internal ID15506058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67233346..67233606hg38UCSC Ensembl
Outerchr11:67000817..67001077hg19UCSC Ensembl
Outerchr11:66757393..66757653hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381495
hg191495
hg181495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625710
Samples1
Known GenesKDM2A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513322
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