A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113485



Internal ID21296751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27886488..27887778hg38UCSC Ensembl
Innerchr22:28282476..28283766hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv727n145
Supporting Variantsnssv14102781
Samplessample115
Known GenesPITPNB
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113485
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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