A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694994



Internal ID21721315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132126469..132126469hg38UCSC Ensembl
chr9:135001856..135001856hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186966
Samples
Known Genes
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)nsv5694994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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