A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566836



Internal ID21515166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132611514..132613962hg38UCSC Ensembl
chr3:132330358..132332806hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382449
hg192449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123617
SamplesHG03486
Known GenesACAD11, NPHP3-ACAD11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566836
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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