A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019288



Internal ID20586328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47238401..47250100hg38UCSC Ensembl
chr14:47707604..47719303hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486659
Supporting Variants
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019288
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0228


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