A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406585



Internal ID185924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109416979..109417022hg38UCSC Ensembl
chr8:110429208..110429251hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016703
Samples
Known GenesPKHD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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