A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693953



Internal ID117619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23052283..23052353hg38UCSC Ensembl
chr14:23521492..23521562hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495071
Supporting Variants
Samples
Known GenesCDH24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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