A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197028



Internal ID20764068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89951501..89959400hg38UCSC Ensembl
chr14:90417845..90425744hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495815
Supporting Variants
Samples
Known GenesEFCAB11, TDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197028
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