A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13693519



Internal ID21215371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168793122..168793122hg38UCSC Ensembl
chr4:169714273..169714273hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2809747
Supporting Variants
Samples
Known GenesPALLD
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13693519
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.3125


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