A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800081



Internal ID21245419
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 StatusM
Merged Variants
Supporting Variantsnssv13694625
Samples
Known GenesEPS8L1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800081
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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