A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996130



Internal ID20563170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106786960..106788866hg38UCSC Ensembl
chr12:107180738..107182644hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381907
hg191907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471812
Supporting Variants
Samples
Known GenesRIC8B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996130
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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