A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513582



Internal ID15506318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17368440..17370586hg38UCSC Ensembl
Outerchr22:17849339..17850527hg19UCSC Ensembl
Outerchr22:16229339..16230527hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg381057
hg191057
hg181057
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626834
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513582
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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