A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679265



Internal ID21705586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185239789..185239789hg38UCSC Ensembl
chr4:186160943..186160943hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175006
Samples
Known GenesSNX25
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)nsv5679265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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