A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513591



Internal ID15853013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38109928..38110298hg38UCSC Ensembl
Outerchr22:38505935..38506305hg19UCSC Ensembl
Outerchr22:36835881..36836251hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381435
hg191435
hg181435
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626843
Samples1
Known GenesBAIAP2L2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513591
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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