A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116686



Internal ID21299952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38699594..38701697hg38UCSC Ensembl
Innerchr22:39095599..39097702hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382104
hg192104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103727
Samplessample224
Known GenesJOSD1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116686
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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