A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588459



Internal ID16029182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22416581..22906870hg38UCSC Ensembl
Innerchr22:22770917..23249040hg19UCSC Ensembl
Innerchr22:21100917..21579040hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38490290
hg19478124
hg18478124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1152114
SamplesHGDP00542
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588459
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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