A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698147



Internal ID121813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63633604..63633655hg38UCSC Ensembl
chr14:64100322..64100373hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560163
Supporting Variants
Samples
Known GenesWDR89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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