A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178148



Internal ID20745188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80544427..80594720hg38UCSC Ensembl
chr14:81010771..81061064hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3850294
hg1950294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495332
Supporting Variants
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178148
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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