A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687279



Internal ID21713600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99959623..99959623hg38UCSC Ensembl
chr6:100407499..100407499hg19UCSC Ensembl
Cytoband6q16.2
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 Variantsnssv17178614, nssv17216886
Samples
Known GenesMCHR2
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)nsv5687279
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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