A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487416



Internal ID264755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42901756..42903582hg38UCSC Ensembl
chr8:42756899..42758725hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009836
Samples
Known GenesHOOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487416
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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