A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17599866



Internal ID21791913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88789475..88789475hg38UCSC Ensembl
chr14:89255819..89255819hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6093241
Supporting Variants
Samples
Known GenesEML5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17599866
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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