A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977473



Internal ID52380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161593186..161593244hg38UCSC Ensembl
chr5:161020192..161020250hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454719
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977473
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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