A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588784



Internal ID16029507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25528477hg38UCSC Ensembl
Innerchr22:25661725..25924444hg19UCSC Ensembl
Innerchr22:23991725..24254444hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38262720
hg19262720
hg18262720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv1151660
SamplesHGDP00015
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588784
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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