A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652100



Internal ID21600405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7696510..7696510hg38UCSC Ensembl
chr16:7746512..7746512hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097288
SamplesHG02587
Known GenesRBFOX1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652100
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer