A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588821



Internal ID16029544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25291547..25513844hg38UCSC Ensembl
Innerchr22:25687514..25909811hg19UCSC Ensembl
Innerchr22:24017514..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38222298
hg19222298
hg18222298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv954466
Samples
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)nsv588821
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer