A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951942



Internal ID15899212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20378519..20650189hg38UCSC Ensembl
Innerchr22:20732809..21004476hg19UCSC Ensembl
Innerchr22:19062809..19334476hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38271671
hg19271668
hg18271668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588293
Supporting Variants
Samples
Known GenesKLHL22, MED15, SCARF2, ZNF74
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951942
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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