A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696024



Internal ID21722345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100159930..100159930hg38UCSC Ensembl
chr13:100812184..100812184hg19UCSC Ensembl
Cytoband13q32.3
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 Variantsnssv17228786, nssv17195656
Samples
Known GenesPCCA
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)nsv5696024
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer