A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513306



Internal ID15506042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:994354..995788hg38UCSC Ensembl
Outerchr11:994354..995788hg19UCSC Ensembl
Outerchr11:984354..985788hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625692
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)nsv513306
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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