A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089299



Internal ID21458096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69124615..69124615hg38UCSC Ensembl
chr16:69158518..69158518hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383891
hg193891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647520
Supporting Variants
SamplesHG02587
Known GenesCHTF8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089299
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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