A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599050



Internal ID21547683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48389838..48389911hg38UCSC Ensembl
chr19:48893095..48893168hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105116
SamplesHG03065
Known GenesKDELR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599050
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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