A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688168



Internal ID21714489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122610389..122610389hg38UCSC Ensembl
chr4:123531544..123531544hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211276, nssv17174600
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)nsv5688168
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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