A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124471



Internal ID21411293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26601643..26601643hg38UCSC Ensembl
chr22:26997607..26997607hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5667930
Supporting Variants
SamplesHG00513
Known GenesCRYBB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124471
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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