A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13694625



Internal ID21216477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55078403..55078477hg38UCSC Ensembl
chr19:55589771..55589845hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2800081
Supporting Variants
Samples
Known GenesEPS8L1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13694625
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.833333


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