A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139268



Internal ID21454262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46859347..46859347hg38UCSC Ensembl
chr22:47255243..47255243hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5672015
Supporting Variants
SamplesHG02011
Known GenesTBC1D22A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139268
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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