A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889640



Internal ID22664659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75626633..75626688hg38UCSC Ensembl
chr4:76551817..76551872hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411934
Samples
Known GenesCDKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889640
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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