A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186579



Internal ID20753619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113862395..113862731hg38UCSC Ensembl
chr12:114300200..114300536hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483940
Supporting Variants
Samples
Known GenesRBM19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186579
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