A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693447



Internal ID21719768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:27045649..27045649hg38UCSC Ensembl
chr4:27047271..27047271hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219429, nssv17211808
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)nsv5693447
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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