A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5671990



Internal ID21620295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19432812..19432812hg38UCSC Ensembl
chr22:19420335..19420335hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134194
SamplesNA19983
Known GenesMRPL40
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5671990
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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