A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450066



Internal ID228285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184840097..185110501hg38UCSC Ensembl
chr3:184557885..184828289hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38270405
hg19270405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943057
Samples
Known GenesC3orf70, VPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450066
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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