A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193321



Internal ID20760361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110292301..110296000hg38UCSC Ensembl
chr11:110163026..110166725hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473383
Supporting Variants
Samples
Known GenesRDX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193321
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0014


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