A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130546



Internal ID21450850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42829299..42829299hg38UCSC Ensembl
chr22:43225305..43225305hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5671235
Supporting Variants
SamplesHG01505
Known GenesARFGAP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130546
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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