A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695024



Internal ID118690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41673251..41673705hg38UCSC Ensembl
chr14:42142454..42142908hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510035
Supporting Variants
Samples
Known GenesLRFN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695024
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001562


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