A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019284



Internal ID20586324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47237201..47248600hg38UCSC Ensembl
chr14:47706404..47717803hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3811400
hg1911400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488510
Supporting Variants
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019284
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02331


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