A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706081



Internal ID129747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18519486..18692486hg38UCSC Ensembl
chr16:18530808..18703808hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38173001
hg19173001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520558
Supporting Variants
Samples
Known GenesABCC6P1, NOMO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706081
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.032937


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