A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588912



Internal ID16029635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33361287..33364387hg38UCSC Ensembl
Innerchr22:33757273..33760373hg19UCSC Ensembl
Innerchr22:32087273..32090373hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383101
hg193101
hg183101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8086n54
Supporting Variantsnssv954663
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588912
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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