A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496394



Internal ID273470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92691929..92778966hg38UCSC Ensembl
chr14:93158274..93245311hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3887038
hg1987038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699483
Samples
Known GenesLGMN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496394
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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