A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196164



Internal ID20763204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47687274..47707787hg38UCSC Ensembl
chr16:47721185..47741698hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3820514
hg1920514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503524
Supporting Variants
Samples
Known GenesPHKB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196164
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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