A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588913



Internal ID16029636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33361573..33363245hg38UCSC Ensembl
Innerchr22:33757559..33759231hg19UCSC Ensembl
Innerchr22:32087559..32089231hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381673
hg191673
hg181673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8087n54
Supporting Variantsnssv954664
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588913
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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