A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697372



Internal ID121038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100104331..100104880hg38UCSC Ensembl
chr14:100570668..100571217hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500182
Supporting Variants
Samples
Known GenesEVL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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