A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705044



Internal ID21731365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76082437..76082437hg38UCSC Ensembl
chr9:78697353..78697353hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187427
Samples
Known GenesPCSK5
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)nsv5705044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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