A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187112



Internal ID20754152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92870138..92872024hg38UCSC Ensembl
chr14:93336483..93338369hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381887
hg191887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502946
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187112
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00068


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