A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498875



Internal ID275858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24101007..24101059hg38UCSC Ensembl
chr14:24570216..24570268hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693424
Samples
Known GenesPCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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