A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182769



Internal ID20749809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55808201..55809900hg38UCSC Ensembl
chr16:55842113..55843812hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496721
Supporting Variants
Samples
Known GenesCES1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182769
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.14404


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