A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711755



Internal ID21738076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122145508..122145508hg38UCSC Ensembl
chr9:124907787..124907787hg19UCSC 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 Variantsnssv17224022, nssv17187806
Samples
Known GenesNDUFA8
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5711755
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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