A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596115



Internal ID21544722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64017204..64017379hg38UCSC Ensembl
chr20:62648557..62648732hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17118096
SamplesHG03486
Known GenesPRPF6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596115
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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