A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586519



Internal ID18538114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23559506..23637032hg38UCSC Ensembl
Innerchr22:23901693..23979219hg19UCSC Ensembl
Innerchr22:22231693..22309219hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3877527
hg1977527
hg1877527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066846
Supporting Variants
Samples
Known GenesC22orf43, IGLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586519
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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