A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955360



Internal ID37550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128707421..128857270hg38UCSC Ensembl
chr4:129628576..129778425hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38149850
hg19149850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473426
Supporting Variants
Samples
Known GenesJADE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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