A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683368



Internal ID21709689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202892261..202892261hg38UCSC Ensembl
chr2:203756984..203756984hg19UCSC Ensembl
Cytoband2q33.2
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 Variantsnssv17209272, nssv17214474
Samples
Known GenesWDR12
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)nsv5683368
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