A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210008



Internal ID20777048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53082368..53087163hg38UCSC Ensembl
chr3:53116384..53121179hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg384796
hg194796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6374599
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210008
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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