A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009458



Internal ID73942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33496895..33496919hg38UCSC Ensembl
chr8:33354413..33354437hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553736
Supporting Variants
Samples
Known GenesMAK16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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