A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184285



Internal ID20751325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46319678..46326170hg38UCSC Ensembl
chr11:46341229..46347720hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386493
hg196492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471632
Supporting Variants
Samples
Known GenesCREB3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184285
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