A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588909



Internal ID16029632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33361287..33362894hg38UCSC Ensembl
Innerchr22:33757273..33758880hg19UCSC Ensembl
Innerchr22:32087273..32088880hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381608
hg191608
hg181608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8087n54
Supporting Variantsnssv954659
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588909
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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