A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13687805



Internal ID21209658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36680686..36680686hg38UCSC Ensembl
chr22:37076731..37076731hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804447
Supporting Variants
Samples
Known GenesCACNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13687805
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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