A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021605



Internal ID20588646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88627744..88628225hg38UCSC Ensembl
chr14:89094088..89094569hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503894
Supporting Variants
Samples
Known GenesEML5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021605
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00058


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