A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681509



Internal ID21707830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206191449..206191449hg38UCSC Ensembl
chr2:207056173..207056173hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221114
Samples
Known GenesGPR1
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)nsv5681509
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