A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951379



Internal ID22726744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86524853..86524853hg38UCSC Ensembl
chr8:87537081..87537081hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440448
Samples
Known GenesCPNE3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951379
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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