A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204126



Internal ID20771166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44011701..44014200hg38UCSC Ensembl
chr21:45431582..45434081hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535636
Supporting Variants
Samples
Known GenesTRAPPC10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204126
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00022


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