A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512552



Internal ID289103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55155699..55223381hg38UCSC Ensembl
chr14:55622417..55690099hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3867683
hg1967683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696326
Samples
Known GenesDLGAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512552
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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