A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967876



Internal ID45905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58336575..58343258hg38UCSC Ensembl
chr5:57632402..57639085hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386684
hg196684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455546
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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