A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483049



Internal ID260492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119077810..119078390hg38UCSC Ensembl
chr8:120090049..120090629hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017482
Samples
Known GenesCOLEC10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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