A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184425



Internal ID20751465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58394301..58399400hg38UCSC Ensembl
chr14:58861019..58866118hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485867
Supporting Variants
Samples
Known GenesTOMM20L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184425
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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