A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019152



Internal ID20586192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51685101..51687900hg38UCSC Ensembl
chr14:52151819..52154618hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490879
Supporting Variants
Samples
Known GenesFRMD6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019152
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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