A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588218



Internal ID16028941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19431016..19432328hg38UCSC Ensembl
Innerchr22:19418539..19419851hg19UCSC Ensembl
Innerchr22:17798539..17799851hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381313
hg191313
hg181313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951701
Samples
Known GenesHIRA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588218
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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