A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939270



Internal ID22714661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104590232..104608565hg38UCSC Ensembl
chr14:105056569..105074902hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3818334
hg1918334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383409
Samples
Known GenesTMEM179
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939270
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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