A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5665719



Internal ID21614024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30454536..30454536hg38UCSC Ensembl
chr22:30850523..30850523hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138420
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5665719
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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