A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496650



Internal ID273723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68954473..68954590hg38UCSC Ensembl
chr14:69421190..69421307hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697815
Samples
Known GenesACTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496650
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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