A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021329



Internal ID20588369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80621933..80623470hg38UCSC Ensembl
chr14:81088277..81089814hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381538
hg191538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479987
Supporting Variants
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021329
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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