A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3933793



Internal ID21353862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41939840..41939840hg38UCSC Ensembl
chr22:42335844..42335844hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190001
SamplesHG002
Known GenesCENPM
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3933793
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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