A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194748



Internal ID20761788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58403688..58413924hg38UCSC Ensembl
chr14:58870406..58880642hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3810237
hg1910237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484749
Supporting Variants
Samples
Known GenesTIMM9, TOMM20L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194748
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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