A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13693516



Internal ID21215368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43745753..43745753hg38UCSC Ensembl
chr12:44139556..44139556hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2792435
Supporting Variants
Samples
Known GenesPUS7L
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13693516
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0625


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