A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193781



Internal ID20760821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99480901..99486400hg38UCSC Ensembl
chr14:99947238..99952737hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499290
Supporting Variants
Samples
Known GenesCCNK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193781
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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