A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930287



Internal ID22705551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39326625..39361653hg38UCSC Ensembl
chr14:39795829..39830857hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3835029
hg1935029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376926
Samples
Known GenesCTAGE5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930287
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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