A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204113



Internal ID20771153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43682514..43689244hg38UCSC Ensembl
chr21:45102395..45109125hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386731
hg196731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6541815
Supporting Variants
Samples
Known GenesRRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204113
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