A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383690



Internal ID22441560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13013831..13025908hg38UCSC Ensembl
chr16:13107688..13119765hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3812078
hg1912078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929874
Supporting Variants
Samples
Known GenesSHISA9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383690
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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