A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588240



Internal ID16028963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19962740..19965038hg38UCSC Ensembl
Innerchr22:19950263..19952561hg19UCSC Ensembl
Innerchr22:18330263..18332561hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951871
Samples
Known GenesCOMT, MIR4761
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588240
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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