A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179625



Internal ID20746665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55808401..55817000hg38UCSC Ensembl
chr16:55842313..55850912hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6506662
Supporting Variants
Samples
Known GenesCES1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179625
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.1535


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