A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5835483



Internal ID22610418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189964101..189970254hg38UCSC Ensembl
chr3:189681890..189688043hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386154
hg196154
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17489794
Samples
Known GenesLEPREL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5835483
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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