A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066846



Internal ID18809377
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 StatusM
Merged Variants
Supporting Variantsnssv3586519, nssv3586520
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)nsv1066846
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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