A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468234



Internal ID246035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169750082..169753214hg38UCSC Ensembl
chr4:170671233..170674365hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg383133
hg193133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958393
Samples
Known GenesC4orf27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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