A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706268



Internal ID21732589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44588929..44588929hg38UCSC Ensembl
chr20:43217570..43217570hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202575, nssv17232253
Samples
Known GenesPKIG
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)nsv5706268
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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