A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960285



Internal ID40824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185411181..185411217hg38UCSC Ensembl
chr4:186332335..186332371hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547734
Supporting Variants
Samples
Known GenesUFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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