A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007192



Internal ID72420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3829080..6093709hg38UCSC Ensembl
chr8:3686602..5951231hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382264630
hg192264630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474669
Supporting Variants
Samples
Known GenesCSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007192
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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