A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678754



Internal ID21705075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208278541..208278541hg38UCSC Ensembl
chr2:209143265..209143265hg19UCSC Ensembl
Cytoband2q34
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 Variantsnssv17216838
Samples
Known GenesPIKFYVE
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)nsv5678754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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