A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13685057



Internal ID21206914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11026425..11026425hg38UCSC Ensembl
chr12:11179024..11179024hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791552
Supporting Variants
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13685057
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.1875


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