A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589048



Internal ID16029771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41003430..41123358hg38UCSC Ensembl
Innerchr22:41399434..41519362hg19UCSC Ensembl
Innerchr22:39729380..39849308hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38119929
hg19119929
hg18119929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957087
Samples
Known GenesEP300, MIR1281
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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