A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405692



Internal ID185034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3475480..3475531hg38UCSC Ensembl
chr2:3479251..3479302hg19UCSC Ensembl
Cytoband2p25.3
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 Variantsnssv16909254
Samples
Known GenesTRAPPC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405692
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