A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943672



Internal ID29760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962014..179962071hg38UCSC Ensembl
chr3:179679802..179679859hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139622
Supporting Variants
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943672
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.580766


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