A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688533



Internal ID21714854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148337323..148337323hg38UCSC Ensembl
chr4:149258475..149258475hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211327, nssv17175656
Samples
Known GenesNR3C2
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)nsv5688533
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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