A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549588



Internal ID323230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86524874..86524901hg38UCSC Ensembl
chr8:87537102..87537129hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013488
Samples
Known GenesCPNE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549588
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