A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428109



Internal ID206990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61328407..61328458hg38UCSC Ensembl
chr14:61795125..61795176hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696004
Samples
Known GenesPRKCH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428109
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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