A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475217



Internal ID252861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68907022..68982590hg38UCSC Ensembl
chr8:69819257..69894825hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3875569
hg1975569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011923
Samples
Known GenesLOC100505718
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475217
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