A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114040



Internal ID21297306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:16125474..16134367hg38UCSC Ensembl
Innerchr19:16236284..16245177hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg388894
hg198894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101288
Samplessample279
Known GenesHSH2D, RAB8A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114040
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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