A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688729



Internal ID21715050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185365692..185365692hg38UCSC Ensembl
chr4:186286846..186286846hg19UCSC Ensembl
Cytoband4q35.1
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 Variantsnssv17175007, nssv17210858
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)nsv5688729
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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