A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694961



Internal ID118627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31245993..31252583hg38UCSC Ensembl
chr14:31715199..31721789hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386591
hg196591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498639
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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