A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588341



Internal ID16029064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21975375..22213371hg38UCSC Ensembl
Innerchr22:22329747..22567762hg19UCSC Ensembl
Innerchr22:20659747..20897762hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38237997
hg19238016
hg18238016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv952005, nssv952006
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588341
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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