A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186146



Internal ID20753186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128269347..128278765hg38UCSC Ensembl
chr12:128753892..128763310hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg389419
hg199419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489657
Supporting Variants
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186146
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