A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535418



Internal ID311057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120049100..120049100hg38UCSC Ensembl
chr8:121061339..121061339hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015990
Samples
Known GenesDEPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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