A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588620



Internal ID16029343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23638681hg38UCSC Ensembl
Innerchr22:23921427..23980868hg19UCSC Ensembl
Innerchr22:22251427..22310868hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3859442
hg1959442
hg1859442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8043n54
Supporting Variantsnssv952681
Samples
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588620
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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