A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979615



Internal ID22754550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14439913..14439913hg38UCSC Ensembl
chr19:14550725..14550725hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409218
Samples
Known GenesPKN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979615
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