A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687528



Internal ID21713849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:115132961..115132961hg38UCSC Ensembl
chr2:115890538..115890538hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209006, nssv17212451
Samples
Known GenesDPP10
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)nsv5687528
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