A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705299



Internal ID21731620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32258761..32258761hg38UCSC Ensembl
chr13:32832898..32832898hg19UCSC Ensembl
Cytoband13q13.1
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 Variantsnssv17221963, nssv17193829
Samples
Known GenesFRY
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)nsv5705299
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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