A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692959



Internal ID21719280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88524516..88524516hg38UCSC Ensembl
chr4:89445667..89445667hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17173723
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)nsv5692959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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