A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512661



Internal ID15852086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48251464..48254336hg38UCSC Ensembl
Outerchr22:48647276..48650148hg19UCSC Ensembl
Outerchr22:47025940..47028812hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382873
hg192873
hg182873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625280
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)nsv512661
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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