A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207957



Internal ID20774997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123135698..123138113hg38UCSC Ensembl
chr3:122854545..122856960hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg382416
hg192416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6373184
Supporting Variants
Samples
Known GenesPDIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207957
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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