A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131203



Internal ID21481289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39596409..39596409hg38UCSC Ensembl
chr22:39992414..39992414hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669029
Supporting Variants
SamplesHG03683
Known GenesCACNA1I
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131203
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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