A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683423



Internal ID21709744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87353310..87353310hg38UCSC Ensembl
chr6:88063028..88063028hg19UCSC Ensembl
Cytoband6q15
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 Variantsnssv17179980
Samples
Known GenesC6orf163
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)nsv5683423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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