A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707669



Internal ID131335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30306486..30326486hg38UCSC Ensembl
chr16:30317807..30337807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531702
Supporting Variants
Samples
Known GenesLOC595101
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001889


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