A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469329



Internal ID247118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132631238..132631398hg38UCSC Ensembl
chr5:131966930..131967090hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975035
Samples
Known GenesRAD50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer