A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939278



Internal ID26896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134817205..134817256hg38UCSC Ensembl
chr3:134536047..134536098hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555733
Supporting Variants
Samples
Known GenesEPHB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939278
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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