A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504643



Internal ID281442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31557942..31562704hg38UCSC Ensembl
chr14:32027148..32031910hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384763
hg194763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693551
Samples
Known GenesNUBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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