A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475395



Internal ID253031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90343368..90344093hg38UCSC Ensembl
chr8:91355596..91356321hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014992
Samples
Known GenesLINC00534
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475395
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