A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678731



Internal ID21705052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48198948..48198948hg38UCSC Ensembl
chr4:48200965..48200965hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211114
Samples
Known GenesTEC
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)nsv5678731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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