A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020591



Internal ID20587631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69308217..69308420hg38UCSC Ensembl
chr14:69774934..69775137hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484896
Supporting Variants
Samples
Known GenesGALNT16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020591
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0045


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