A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677858



Internal ID21704179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77033812..77033812hg38UCSC Ensembl
chr4:77954965..77954965hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17173656
Samples
Known GenesSEPT11
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)nsv5677858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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