A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483579



Internal ID21141132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47303129..47303723hg38UCSC Ensembl
chr14:47772332..47772926hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019298
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483579
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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