A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016712



Internal ID20583752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22930911..22932128hg38UCSC Ensembl
chr14:23400120..23401337hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381218
hg191218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489880
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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