A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510060



Internal ID286690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73955232..73957299hg38UCSC Ensembl
chr14:74421935..74424002hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382068
hg192068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699257
Samples
Known GenesCOQ6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510060
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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