A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943333



Internal ID29542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184287010..184304671hg38UCSC Ensembl
chr3:184004798..184022459hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3817662
hg1917662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441425
Supporting Variants
Samples
Known GenesECE2, PSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943333
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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