A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946972



Internal ID21367043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42818816..42818816hg38UCSC Ensembl
chr22:43214822..43214822hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190004
SamplesHG002
Known GenesARFGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946972
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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