A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021332



Internal ID20588372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80642772..80690171hg38UCSC Ensembl
chr14:81109116..81156515hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3847400
hg1947400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492232
Supporting Variants
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021332
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