A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686645



Internal ID21712966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:156061910..156061910hg38UCSC Ensembl
chr4:156983062..156983062hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212555, nssv17174818
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)nsv5686645
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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