A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696282



Internal ID21722603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77331938..77331938hg38UCSC Ensembl
chr9:79946854..79946854hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186670, nssv17217747
Samples
Known GenesVPS13A
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)nsv5696282
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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