A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380868



Internal ID22438738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83789538..83851096hg38UCSC Ensembl
chr16:83823143..83884701hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3861559
hg1961559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940332
Supporting Variants
Samples
Known GenesCDH13, HSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380868
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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