A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675991



Internal ID21702312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134480586..134480586hg38UCSC Ensembl
chr2:135238157..135238157hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209130, nssv17229353
Samples
Known GenesTMEM163
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)nsv5675991
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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