A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943271



Internal ID29496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181392124..181392174hg38UCSC Ensembl
chr3:181109912..181109962hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542916
Supporting Variants
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.388074


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