A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179489



Internal ID20746529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35265201..35324800hg38UCSC Ensembl
chr14:35734407..35794006hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3859600
hg1959600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493885
Supporting Variants
Samples
Known GenesKIAA0391, PSMA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179489
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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