A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503049



Internal ID279895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61496854..61517326hg38UCSC Ensembl
chr14:61963572..61984044hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3820473
hg1920473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696013
Samples
Known GenesPRKCH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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