A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2794291



Internal ID21239629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105236843..105236843hg38UCSC Ensembl
chr14:105703180..105703180hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13690378
Samples
Known GenesBRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2794291
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