A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5665063



Internal ID21613368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48666490..48666490hg38UCSC Ensembl
chr22:49062302..49062302hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121613
SamplesHG00731
Known GenesFAM19A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5665063
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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