A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212374



Internal ID20779414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75624016..75629907hg38UCSC Ensembl
chr4:76549200..76555091hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg385892
hg195892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6386659
Supporting Variants
Samples
Known GenesCDKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212374
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