A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185206



Internal ID20752246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116801367..116802011hg38UCSC Ensembl
chr12:117239172..117239816hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483478
Supporting Variants
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185206
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