A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708756



Internal ID132422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:78673486..79733774hg38UCSC Ensembl
chr16:78707383..79767671hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381060289
hg191060289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516624
Supporting Variants
Samples
Known GenesLOC102467146, MAF, WWOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708756
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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