A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942307



Internal ID21362377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55331822..55331822hg38UCSC Ensembl
chr14:55798540..55798540hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194838
SamplesHG002
Known GenesFBXO34
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942307
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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