A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994970



Internal ID21904313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130011076..130011541hg38UCSC Ensembl
chr4:130932231..130932696hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556133
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994970
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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