A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588906



Internal ID16029629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33360030..33364387hg38UCSC Ensembl
Innerchr22:33756016..33760373hg19UCSC Ensembl
Innerchr22:32086016..32090373hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384358
hg194358
hg184358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8085n54
Supporting Variantsnssv954651, nssv954653, nssv954652
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588906
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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