A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510554



Internal ID287166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73954690..73956075hg38UCSC Ensembl
chr14:74421393..74422778hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699255
Samples
Known GenesCOQ6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510554
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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