A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409058



Internal ID188380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122145508..122145559hg38UCSC Ensembl
chr9:124907787..124907838hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027749
Samples
Known GenesNDUFA8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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