A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683376



Internal ID21709697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:157573204..157573204hg38UCSC Ensembl
chr4:158494356..158494356hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174917, nssv17212567
Samples
Known GenesLOC340017
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)nsv5683376
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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