A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943292



Internal ID29512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181659841..181660920hg38UCSC Ensembl
chr3:181377629..181378708hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453166
Supporting Variants
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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