A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178478



Internal ID20745518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31455901..31461600hg38UCSC Ensembl
chr14:31925107..31930806hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480165
Supporting Variants
Samples
Known GenesDTD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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