A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486303



Internal ID21143856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49683365..49684940hg38UCSC Ensembl
chr14:50150083..50151658hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019702
Samples
Known GenesPOLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486303
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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