A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213708



Internal ID20780748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46893801..46895600hg38UCSC Ensembl
chr4:46895818..46897617hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6393014
Supporting Variants
Samples
Known GenesCOX7B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213708
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