A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513584



Internal ID15506320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19202359..19202408hg38UCSC Ensembl
Outerchr22:19189869..19189918hg19UCSC Ensembl
Outerchr22:17569869..17569918hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38986
hg19986
hg18986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626836
Samples1
Known GenesCLTCL1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513584
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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