A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588762



Internal ID16376171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25236299..25439547hg38UCSC Ensembl
Innerchr22:25632266..25835514hg19UCSC Ensembl
Innerchr22:23962266..24165514hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38203249
hg19203249
hg18203249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8072n54
Supporting Variantsnssv954361
Samples
Known GenesIGLL3P, LRP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588762
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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