A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195652



Internal ID20762692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65711701..65721100hg38UCSC Ensembl
chr14:66178419..66187818hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495254
Supporting Variants
Samples
Known GenesFUT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195652
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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