A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560392



Internal ID333399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109369529..109369580hg38UCSC Ensembl
chr8:110381758..110381809hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015206
Samples
Known GenesPKHD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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