A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497989



Internal ID275001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59844063..59845077hg38UCSC Ensembl
chr14:60310781..60311795hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698027
Samples
Known GenesRTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497989
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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