A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188804



Internal ID20755844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47167701..47172400hg38UCSC Ensembl
chr12:47561484..47566183hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466308
Supporting Variants
Samples
Known GenesPCED1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188804
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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