A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450171



Internal ID228388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6207821..6210790hg38UCSC Ensembl
chr4:6209548..6212517hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382970
hg192970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945000
Samples
Known GenesLOC285484
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450171
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