A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204986



Internal ID20772026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29891870..29892293hg38UCSC Ensembl
chr22:30287859..30288282hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6541598
Supporting Variants
Samples
Known GenesMTMR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204986
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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