A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670596



Internal ID21618901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31297753..31297753hg38UCSC Ensembl
chr22:31693739..31693739hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382943
hg192943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17128212
SamplesHG01596
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670596
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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