A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13676748



Internal ID21198599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24336643..24336643hg38UCSC Ensembl
chr16:24347964..24347964hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2795120
Supporting Variants
Samples
Known GenesCACNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13676748
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.09375


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