A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511711



Internal ID288283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63991313..63993927hg38UCSC Ensembl
chr14:64458031..64460645hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg382615
hg192615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698175
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511711
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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