A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647520



Internal ID21595825
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 StatusM
Merged Variants
Supporting Variantsnssv17089299
SamplesHG02587
Known GenesCHTF8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647520
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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