A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13693540



Internal ID21215392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14774675..14774675hg38UCSC Ensembl
chr19:14885487..14885487hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2799398
Supporting Variants
Samples
Known GenesEMR2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13693540
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.578125


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