A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6365378



Internal ID21022931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138543974..138544524hg38UCSC Ensembl
chr3:138262816..138263366hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209617
Samples
Known GenesCEP70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6365378
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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