A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698785



Internal ID122451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100245171..100253779hg38UCSC Ensembl
chr14:100711508..100720116hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg388609
hg198609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506584
Supporting Variants
Samples
Known GenesYY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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