A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646309



Internal ID21594614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89934170..89934170hg38UCSC Ensembl
chr16:90000578..90000578hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086149
SamplesHG00512
Known GenesTUBB3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646309
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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