A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698222



Internal ID121888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66629883..66629934hg38UCSC Ensembl
chr14:67096601..67096652hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422229
Supporting Variants
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698222
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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