A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950381



Internal ID22725785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190007965..190007965hg38UCSC Ensembl
chr3:189725754..189725754hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414527
Samples
Known GenesLEPREL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950381
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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