A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943289



Internal ID29510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181659192..181659231hg38UCSC Ensembl
chr3:181376980..181377019hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403731
Supporting Variants
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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