A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695179



Internal ID21721500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48678425..48678425hg38UCSC Ensembl
chr13:49252561..49252561hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193520, nssv17219012
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)nsv5695179
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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