A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804447



Internal ID21249785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36680686..36680686hg38UCSC Ensembl
chr22:37076731..37076731hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13685926, nssv13687805
Samples
Known GenesCACNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804447
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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