A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13704070



Internal ID21225876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069987..6069987hg38UCSC Ensembl
chr19:6069998..6069998hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2800501
Supporting Variants
Samples
Known GenesRFX2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13704070
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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