A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698446



Internal ID122112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103316576..103320065hg38UCSC Ensembl
chr14:103782913..103786402hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500746
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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