A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691262



Internal ID21717583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185375488..185375488hg38UCSC Ensembl
chr4:186296642..186296642hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175008, nssv17210859
Samples
Known GenesLRP2BP
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)nsv5691262
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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