A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016710



Internal ID78795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109527060..109527128hg38UCSC Ensembl
chr8:110539289..110539357hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483966
Supporting Variants
Samples
Known GenesPKHD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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