A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713308



Internal ID21739629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36643263..36643263hg38UCSC Ensembl
chr13:37217400..37217400hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193466, nssv17220374
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)nsv5713308
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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