A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5669477



Internal ID21617783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41835231..41835231hg38UCSC Ensembl
chr22:42231235..42231235hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137868
SamplesHG00731
Known GenesSREBF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5669477
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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