A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3925515



Internal ID21345586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29642201..29642201hg38UCSC Ensembl
chr14:30111407..30111407hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194803
SamplesHG002
Known GenesMIR548AI, PRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3925515
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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