A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935690



Internal ID22711035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47666262..47666320hg38UCSC Ensembl
chr14:48135465..48135523hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382149
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935690
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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