A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945880



Internal ID21365949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50344538..50344538hg38UCSC Ensembl
chr22:50782967..50782967hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188814
SamplesHG002
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945880
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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