A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685991



Internal ID21712312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84318674..84318674hg38UCSC Ensembl
chr6:85028392..85028392hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180378, nssv17226148
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)nsv5685991
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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