A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476808



Internal ID254410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84380784..84431193hg38UCSC Ensembl
chr8:85293019..85343428hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3850410
hg1950410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014164
Samples
Known GenesRALYL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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