A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476432



Internal ID254043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1733963..1805616hg38UCSC Ensembl
chr8:1682129..1753782hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3871654
hg1971654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008098
Samples
Known GenesCLN8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476432
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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