A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465173



Internal ID243042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53666107..53669331hg38UCSC Ensembl
chr5:52961937..52965161hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383225
hg193225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965965
Samples
Known GenesNDUFS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465173
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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