A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650108



Internal ID21598413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19489000..19489000hg38UCSC Ensembl
chr16:19500322..19500322hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080410
SamplesHG00732
Known GenesTMC5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650108
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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