A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685041



Internal ID21711362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99637639..99637639hg38UCSC Ensembl
chr6:100085515..100085515hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178606
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)nsv5685041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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