A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919034



Internal ID13455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147861904..147861904hg38UCSC Ensembl
chr2:148619473..148619473hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406192
Supporting Variants
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.039836


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