A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432120



Internal ID21394122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61322283..61399282hg38UCSC Ensembl
chr14:61789001..61866000hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3877000
hg1977000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15753852
SamplesSMI041
Known GenesPRKCH
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432120
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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