A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454376



Internal ID232478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176416808..176416983hg38UCSC Ensembl
chr5:175843809..175843984hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977234
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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