A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677911



Internal ID21704232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143466417..143466417hg38UCSC Ensembl
chr6:143787554..143787554hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179854
Samples
Known GenesPEX3
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)nsv5677911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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