A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3941593



Internal ID21361663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17911873..17911873hg38UCSC Ensembl
chr22:18394639..18394639hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189932
SamplesHG002
Known GenesMICAL3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3941593
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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