A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541800



Internal ID316356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57254467..57254467hg38UCSC Ensembl
chr14:57721185..57721185hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694889
Samples
Known GenesEXOC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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