A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686179



Internal ID21712500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173823055..173823055hg38UCSC Ensembl
chr4:174744206..174744206hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175794
Samples
Known Genes
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)nsv5686179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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