A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588462



Internal ID16375871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22438063..22598164hg38UCSC Ensembl
Innerchr22:22792400..22940634hg19UCSC Ensembl
Innerchr22:21122400..21270634hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38160102
hg19148235
hg18148235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8014n54
Supporting Variantsnssv1152116
SamplesNINDS_203
Known GenesLOC648691, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588462
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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