A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973174



Internal ID22748109
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 Variantsnssv17407853
Samples
Known GenesARFGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973174
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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