A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13690840



Internal ID21212693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41939897..41939897hg38UCSC Ensembl
chr22:42335901..42335901hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804801
Supporting Variants
Samples
Known GenesCENPM
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13690840
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.306452


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer