A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130370



Internal ID21466351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36693110..36693110hg38UCSC Ensembl
chr22:37089155..37089155hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665304
Supporting Variants
SamplesHG03065
Known GenesCACNG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130370
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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