A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698274



Internal ID121940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67552951..67553083hg38UCSC Ensembl
chr14:68019668..68019800hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500457
Supporting Variants
Samples
Known GenesPLEKHH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698274
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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