A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588842



Internal ID16376251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25336730..25361819hg38UCSC Ensembl
Innerchr22:25732697..25757786hg19UCSC Ensembl
Innerchr22:24062697..24087786hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3825090
hg1925090
hg1825090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8079n54
Supporting Variantsnssv954524
Samples
Known GenesLRP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588842
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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