A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513305



Internal ID15506041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:979624..980787hg38UCSC Ensembl
Outerchr11:979624..980787hg19UCSC Ensembl
Outerchr11:969624..970787hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381187
hg191187
hg181187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625691
Samples1
Known GenesAP2A2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513305
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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