A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702111



Internal ID21728432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:108000386..108000386hg38UCSC Ensembl
chr9:110762667..110762667hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187327, nssv17226305
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)nsv5702111
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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