A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513583



Internal ID15853005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17408609..17410883hg38UCSC Ensembl
Outerchr22:17888505..17889930hg19UCSC Ensembl
Outerchr22:16268505..16269930hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38954
hg19954
hg18954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626835
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)nsv513583
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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