A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588904



Internal ID16029627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33360030..33363997hg38UCSC Ensembl
Innerchr22:33756016..33759983hg19UCSC Ensembl
Innerchr22:32086016..32089983hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383968
hg193968
hg183968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8085n54
Supporting Variantsnssv954624, nssv954623, nssv954625
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588904
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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