A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188552



Internal ID20755592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104058547..104336901hg38UCSC Ensembl
chr14:104524884..104803238hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38278355
hg19278355
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505785
Supporting Variants
Samples
Known GenesASPG, KIF26A, MIR203, MIR3545
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188552
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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