A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695205



Internal ID118871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50396654..50396713hg38UCSC Ensembl
chr14:50863372..50863431hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505720
Supporting Variants
Samples
Known GenesCDKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695205
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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