A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685788



Internal ID21712109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119217957..119217957hg38UCSC Ensembl
chr6:119539122..119539122hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180201
Samples
Known GenesMAN1A1
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)nsv5685788
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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