A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443459



Internal ID22501329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108058627..108063838hg38UCSC Ensembl
chr8:109070855..109076066hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg385212
hg195212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911248
Supporting Variants
Samples
Known GenesRSPO2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443459
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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