A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954773



Internal ID37170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128851444..129013516hg38UCSC Ensembl
chr4:129772599..129934671hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38162073
hg19162073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461924
Supporting Variants
Samples
Known GenesJADE1, SCLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954773
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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