A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192086



Internal ID20759126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117298197..117300496hg38UCSC Ensembl
chr11:117168913..117171212hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463338
Supporting Variants
Samples
Known GenesBACE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192086
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