A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700486



Internal ID124152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103896552..103896779hg38UCSC Ensembl
chr14:104362889..104363116hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502809
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.938944


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