A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432133



Internal ID21394135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70948284..70950283hg38UCSC Ensembl
chr14:71415001..71417000hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15748526
SamplesMDQ010
Known GenesPCNX
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432133
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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