A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505210



Internal ID281992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47256127..47279163hg38UCSC Ensembl
chr14:47725330..47748366hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3823037
hg1923037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694756
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505210
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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