A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943508



Internal ID29656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:176803184..177157302hg38UCSC Ensembl
chr3:176520972..176875090hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38354119
hg19354119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441367
Supporting Variants
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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