A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921390



Internal ID22696614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80694766..80698969hg38UCSC Ensembl
chr8:81607001..81611204hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384204
hg194204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446150
Samples
Known GenesZNF704
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921390
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer