A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691739



Internal ID21718060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41934997..41934997hg38UCSC Ensembl
chr4:41937014..41937014hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231121, nssv17208638
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)nsv5691739
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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