A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682356



Internal ID21708677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222266496..222266496hg38UCSC Ensembl
chr2:223131215..223131215hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209457
Samples
Known GenesPAX3
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)nsv5682356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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