A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670963



Internal ID21619268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64012574..64012574hg38UCSC Ensembl
chr20:62643927..62643927hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17118094
SamplesHG00513
Known GenesPRPF6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670963
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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