A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6088596



Internal ID21997829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54724007..54724007hg38UCSC Ensembl
chr14:55190725..55190725hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613425
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6088596
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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