A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698145



Internal ID121811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63610952..63611980hg38UCSC Ensembl
chr14:64077670..64078698hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498751
Supporting Variants
Samples
Known GenesWDR89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698145
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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