A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015208



Internal ID77795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109382400..109383125hg38UCSC Ensembl
chr8:110394629..110395354hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489779
Supporting Variants
Samples
Known GenesPKHD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015208
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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