A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684380



Internal ID21710701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156798284..156798284hg38UCSC Ensembl
chr5:156225295..156225295hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179055, nssv17228397
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)nsv5684380
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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