A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179785



Internal ID20746825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47072885..47079716hg38UCSC Ensembl
chr12:47466668..47473499hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg386832
hg196832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465527
Supporting Variants
Samples
Known GenesAMIGO2, PCED1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179785
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