A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704055



Internal ID21730376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83778744..83778744hg38UCSC Ensembl
chr9:86393659..86393659hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221065, nssv17186822
Samples
Known GenesGKAP1
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)nsv5704055
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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