A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944691



Internal ID30475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181086473..181087409hg38UCSC Ensembl
chr3:180804261..180805197hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440175
Supporting Variants
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944691
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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