A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400729



Internal ID180109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27512799..27512850hg38UCSC Ensembl
chr8:27370316..27370367hg19UCSC Ensembl
Cytoband8p21.2
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 Variantsnssv17010080
Samples
Known GenesEPHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400729
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