A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588238



Internal ID16028961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19911363..19950115hg38UCSC Ensembl
Innerchr22:19898886..19937638hg19UCSC Ensembl
Innerchr22:18278886..18317638hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3838753
hg1938753
hg1838753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951869
Samples
Known GenesCOMT, TXNRD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588238
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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