A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478777



Internal ID256323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138711820..138715367hg38UCSC Ensembl
chr8:139724063..139727610hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018172
Samples
Known GenesCOL22A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478777
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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