A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967011



Internal ID45334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79583656..79657828hg38UCSC Ensembl
chr5:78879479..78953651hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3874173
hg1974173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468191
Supporting Variants
Samples
Known GenesPAPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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