A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730121



Internal ID153787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27578869..27588091hg38UCSC Ensembl
chr3:27620360..27629582hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg389223
hg199223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445980
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730121
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