A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978640



Internal ID22753575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58404119..58404119hg38UCSC Ensembl
chr14:58870837..58870837hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388170
Samples
Known GenesTOMM20L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978640
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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