A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450108



Internal ID228326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37861..135262hg38UCSC Ensembl
chr4:37862..129007hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3897402
hg1991146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944645
Samples
Known GenesZNF595, ZNF718
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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