A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513130



Internal ID289661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80623362..80629088hg38UCSC Ensembl
chr14:81089706..81095432hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg385727
hg195727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698997
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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