A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2817687



Internal ID21263025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22765796..22765796hg38UCSC Ensembl
chr8:22623309..22623309hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13710398
Samples
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2817687
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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