A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151833



Internal ID15531389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23637155hg38UCSC Ensembl
Innerchr22:23921427..23979342hg19UCSC Ensembl
Innerchr22:22251427..22309342hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3857916
hg1957916
hg1857916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588619
Supporting Variants
SamplesHGDP01091
Known GenesC22orf43, IGLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151833
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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