A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940015



Internal ID27399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138480477..138945708hg38UCSC Ensembl
chr3:138199319..138664550hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38465232
hg19465232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443886
Supporting Variants
Samples
Known GenesCEP70, FAIM, FOXL2, PIK3CB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940015
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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