A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488818



Internal ID266114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95036805..95042543hg38UCSC Ensembl
chr8:96049033..96054771hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg385739
hg195739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016026
Samples
Known GenesNDUFAF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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