A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563212



Internal ID336149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49997239..49998057hg38UCSC Ensembl
chr14:50463957..50464775hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696688
Samples
Known GenesC14orf182
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563212
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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