A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588929



Internal ID16029652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33385806..33386721hg38UCSC Ensembl
Innerchr22:33781792..33782707hg19UCSC Ensembl
Innerchr22:32111792..32112707hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38916
hg19916
hg18916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8090n54
Supporting Variantsnssv954736
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588929
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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