A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194803



Internal ID21333701
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3925515
Supporting Variants
SamplesHG002
Known GenesMIR548AI, PRKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194803
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