A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710567



Internal ID21736888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111908088..111908088hg38UCSC Ensembl
chr13:112562402..112562402hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227499, nssv17195127
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)nsv5710567
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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