A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13685587



Internal ID21207446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453907..41453907hg38UCSC Ensembl
chr12:41847709..41847709hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2792143
Supporting Variants
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13685587
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.421875


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