A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625264



Internal ID15848800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23683031..23685399hg38UCSC Ensembl
Outerchr22:24025218..24027586hg19UCSC Ensembl
Outerchr22:22355218..22357586hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382369
hg192369
hg182369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512648
Supporting Variants
Samples1
Known GenesGUSBP11
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625264
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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