A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679590



Internal ID21705911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:92837345..92837345hg38UCSC Ensembl
chr4:93758496..93758496hg19UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174452
Samples
Known GenesGRID2
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)nsv5679590
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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