A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688756



Internal ID21715077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16609791..16609791hg38UCSC Ensembl
chr2:16791059..16791059hg19UCSC Ensembl
Cytoband2p24.2
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 Variantsnssv17197502
Samples
Known GenesFAM49A
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)nsv5688756
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