A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474231



Internal ID251894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68654269..68657505hg38UCSC Ensembl
chr8:69566504..69569740hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383237
hg193237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013772
Samples
Known GenesC8orf34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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