A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494694



Internal ID21152247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58399240..58408521hg38UCSC Ensembl
chr14:58865958..58875239hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg389282
hg199282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019889
Samples
Known GenesTOMM20L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494694
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